SNP Links for Protein (Select 767973839) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 417

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Select item 14894723441.

rs1489472344 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53424731 (GRCh38)
12:53818515 (GRCh37)
Canonical SPDI:: NC_000012.12:53424730:A:G
Gene:: AMHR2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53424731A>G, NC_000012.11:g.53818515A>G, NG_015981.1:g.5877A>G, NM_020547.3:c.255A>G, NM_020547.2:c.255A>G, NM_001164690.2:c.255A>G, NM_001164690.1:c.255A>G, NM_001164691.2:c.255A>G, NM_001164691.1:c.255A>G, XM_011538173.2:c.255A>G, XM_011538173.1:c.255A>G, XM_011538174.2:c.255A>G, XM_011538174.1:c.255A>G, XM_011538176.2:c.255A>G, XM_011538176.1:c.255A>G, XM_017019179.2:c.255A>G, XM_017019179.1:c.255A>G, XM_011538183.2:c.255A>G, XM_011538183.1:c.255A>G, XM_011538178.2:c.255A>G, XM_011538178.1:c.255A>G, XM_011538184.2:c.255A>G, XM_011538184.1:c.255A>G, XM_011538179.2:c.255A>G, XM_011538179.1:c.255A>G, XM_024448938.2:c.255A>G, XM_024448938.1:c.255A>G, XM_011538180.2:c.8A>G, XM_011538180.1:c.8A>G, XM_011538181.2:c.8A>G, XM_011538181.1:c.8A>G, XM_011538185.2:c.255A>G, XM_011538185.1:c.255A>G, XM_047428700.1:c.255A>G, XP_011536482.1:p.Gln3Arg, XP_011536483.1:p.Gln3Arg

Select item 14871492582.

rs1487149258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53424324 (GRCh38)
12:53818108 (GRCh37)
Canonical SPDI:: NC_000012.12:53424323:C:T
Gene:: AMHR2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53424324C>T, NC_000012.11:g.53818108C>T, NG_015981.1:g.5470C>T, NM_020547.3:c.86C>T, NM_020547.2:c.86C>T, NM_001164690.2:c.86C>T, NM_001164690.1:c.86C>T, NM_001164691.2:c.86C>T, NM_001164691.1:c.86C>T, XM_011538173.2:c.86C>T, XM_011538173.1:c.86C>T, XM_011538174.2:c.86C>T, XM_011538174.1:c.86C>T, XM_011538176.2:c.86C>T, XM_011538176.1:c.86C>T, XM_017019179.2:c.86C>T, XM_017019179.1:c.86C>T, XM_011538183.2:c.86C>T, XM_011538183.1:c.86C>T, XM_011538178.2:c.86C>T, XM_011538178.1:c.86C>T, XM_011538184.2:c.86C>T, XM_011538184.1:c.86C>T, XM_011538179.2:c.86C>T, XM_011538179.1:c.86C>T, XM_024448938.2:c.86C>T, XM_024448938.1:c.86C>T, XM_011538185.2:c.86C>T, XM_011538185.1:c.86C>T, XM_047428700.1:c.86C>T, NP_065434.1:p.Ala29Val, NP_001158162.1:p.Ala29Val, NP_001158163.1:p.Ala29Val, XP_011536475.1:p.Ala29Val, XP_011536476.1:p.Ala29Val, XP_011536478.1:p.Ala29Val, XP_016874668.1:p.Ala29Val, XP_011536485.1:p.Ala29Val, XP_011536480.1:p.Ala29Val, XP_011536486.1:p.Ala29Val, XP_011536481.1:p.Ala29Val, XP_024304706.1:p.Ala29Val, XP_011536487.1:p.Ala29Val, XP_047284656.1:p.Ala29Val

Select item 14846008333.

rs1484600833 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53428937 (GRCh38)
12:53822721 (GRCh37)
Canonical SPDI:: NC_000012.12:53428936:G:C
Gene:: AMHR2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53428937G>C, NC_000012.11:g.53822721G>C, NG_015981.1:g.10083G>C, NM_020547.3:c.894G>C, NM_020547.2:c.894G>C, NM_001164690.2:c.894G>C, NM_001164690.1:c.894G>C, NM_001164691.2:c.894G>C, NM_001164691.1:c.894G>C, XM_011538173.2:c.954G>C, XM_011538173.1:c.954G>C, XM_011538174.2:c.951G>C, XM_011538174.1:c.951G>C, XM_011538176.2:c.897G>C, XM_011538176.1:c.897G>C, XM_017019179.2:c.954G>C, XM_017019179.1:c.954G>C, XM_011538183.2:c.954G>C, XM_011538183.1:c.954G>C, XM_011538178.2:c.735G>C, XM_011538178.1:c.735G>C, XM_011538184.2:c.954G>C, XM_011538184.1:c.954G>C, XM_011538179.2:c.954G>C, XM_011538179.1:c.954G>C, XM_024448938.2:c.897G>C, XM_024448938.1:c.897G>C, XM_011538180.2:c.621G>C, XM_011538180.1:c.621G>C, XM_011538181.2:c.618G>C, XM_011538181.1:c.618G>C, NP_065434.1:p.Trp298Cys, NP_001158162.1:p.Trp298Cys, NP_001158163.1:p.Trp298Cys, XP_011536475.1:p.Trp318Cys, XP_011536476.1:p.Trp317Cys, XP_011536478.1:p.Trp299Cys, XP_016874668.1:p.Trp318Cys, XP_011536485.1:p.Trp318Cys, XP_011536480.1:p.Trp245Cys, XP_011536486.1:p.Trp318Cys, XP_011536481.1:p.Trp318Cys, XP_024304706.1:p.Trp299Cys, XP_011536482.1:p.Trp207Cys, XP_011536483.1:p.Trp206Cys

Select item 14810730884.

rs1481073088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53424743 (GRCh38)
12:53818527 (GRCh37)
Canonical SPDI:: NC_000012.12:53424742:C:A
Gene:: AMHR2 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53424743C>A, NC_000012.11:g.53818527C>A, NG_015981.1:g.5889C>A, NM_020547.3:c.267C>A, NM_020547.2:c.267C>A, NM_001164690.2:c.267C>A, NM_001164690.1:c.267C>A, NM_001164691.2:c.267C>A, NM_001164691.1:c.267C>A, XM_011538173.2:c.267C>A, XM_011538173.1:c.267C>A, XM_011538174.2:c.267C>A, XM_011538174.1:c.267C>A, XM_011538176.2:c.267C>A, XM_011538176.1:c.267C>A, XM_017019179.2:c.267C>A, XM_017019179.1:c.267C>A, XM_011538183.2:c.267C>A, XM_011538183.1:c.267C>A, XM_011538178.2:c.267C>A, XM_011538178.1:c.267C>A, XM_011538184.2:c.267C>A, XM_011538184.1:c.267C>A, XM_011538179.2:c.267C>A, XM_011538179.1:c.267C>A, XM_024448938.2:c.267C>A, XM_024448938.1:c.267C>A, XM_011538180.2:c.20C>A, XM_011538180.1:c.20C>A, XM_011538181.2:c.20C>A, XM_011538181.1:c.20C>A, XM_011538185.2:c.267C>A, XM_011538185.1:c.267C>A, XM_047428700.1:c.267C>A, XP_011536482.1:p.Pro7His, XP_011536483.1:p.Pro7His

Select item 14806703205.

rs1480670320 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53424421 (GRCh38)
12:53818205 (GRCh37)
Canonical SPDI:: NC_000012.12:53424420:C:T
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53424421C>T, NC_000012.11:g.53818205C>T, NG_015981.1:g.5567C>T, NM_020547.3:c.183C>T, NM_020547.2:c.183C>T, NM_001164690.2:c.183C>T, NM_001164690.1:c.183C>T, NM_001164691.2:c.183C>T, NM_001164691.1:c.183C>T, XM_011538173.2:c.183C>T, XM_011538173.1:c.183C>T, XM_011538174.2:c.183C>T, XM_011538174.1:c.183C>T, XM_011538176.2:c.183C>T, XM_011538176.1:c.183C>T, XM_017019179.2:c.183C>T, XM_017019179.1:c.183C>T, XM_011538183.2:c.183C>T, XM_011538183.1:c.183C>T, XM_011538178.2:c.183C>T, XM_011538178.1:c.183C>T, XM_011538184.2:c.183C>T, XM_011538184.1:c.183C>T, XM_011538179.2:c.183C>T, XM_011538179.1:c.183C>T, XM_024448938.2:c.183C>T, XM_024448938.1:c.183C>T, XM_011538185.2:c.183C>T, XM_011538185.1:c.183C>T, XM_047428700.1:c.183C>T

Select item 14802851916.

rs1480285191 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53424309 (GRCh38)
12:53818093 (GRCh37)
Canonical SPDI:: NC_000012.12:53424308:G:C
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53424309G>C, NC_000012.11:g.53818093G>C, NG_015981.1:g.5455G>C, NM_020547.3:c.71G>C, NM_020547.2:c.71G>C, NM_001164690.2:c.71G>C, NM_001164690.1:c.71G>C, NM_001164691.2:c.71G>C, NM_001164691.1:c.71G>C, XM_011538173.2:c.71G>C, XM_011538173.1:c.71G>C, XM_011538174.2:c.71G>C, XM_011538174.1:c.71G>C, XM_011538176.2:c.71G>C, XM_011538176.1:c.71G>C, XM_017019179.2:c.71G>C, XM_017019179.1:c.71G>C, XM_011538183.2:c.71G>C, XM_011538183.1:c.71G>C, XM_011538178.2:c.71G>C, XM_011538178.1:c.71G>C, XM_011538184.2:c.71G>C, XM_011538184.1:c.71G>C, XM_011538179.2:c.71G>C, XM_011538179.1:c.71G>C, XM_024448938.2:c.71G>C, XM_024448938.1:c.71G>C, XM_011538185.2:c.71G>C, XM_011538185.1:c.71G>C, XM_047428700.1:c.71G>C, NP_065434.1:p.Cys24Ser, NP_001158162.1:p.Cys24Ser, NP_001158163.1:p.Cys24Ser, XP_011536475.1:p.Cys24Ser, XP_011536476.1:p.Cys24Ser, XP_011536478.1:p.Cys24Ser, XP_016874668.1:p.Cys24Ser, XP_011536485.1:p.Cys24Ser, XP_011536480.1:p.Cys24Ser, XP_011536486.1:p.Cys24Ser, XP_011536481.1:p.Cys24Ser, XP_024304706.1:p.Cys24Ser, XP_011536487.1:p.Cys24Ser, XP_047284656.1:p.Cys24Ser

Select item 14784485307.

rs1478448530 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53429644 (GRCh38)
12:53823428 (GRCh37)
Canonical SPDI:: NC_000012.12:53429643:T:C
Gene:: AMHR2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53429644T>C, NC_000012.11:g.53823428T>C, NG_015981.1:g.10790T>C, XM_011538184.2:c.1219T>C, XM_011538184.1:c.1219T>C, XP_011536486.1:p.Trp407Arg

Select item 14752428498.

rs1475242849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53429549 (GRCh38)
12:53823333 (GRCh37)
Canonical SPDI:: NC_000012.12:53429548:C:T
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53429549C>T, NC_000012.11:g.53823333C>T, NG_015981.1:g.10695C>T, NM_020547.3:c.1064C>T, NM_020547.2:c.1064C>T, NM_001164690.2:c.1064C>T, NM_001164690.1:c.1064C>T, NM_001164691.2:c.1064C>T, NM_001164691.1:c.1064C>T, XM_011538186.4:c.239C>T, XM_011538186.3:c.239C>T, XM_011538186.2:c.239C>T, XM_011538186.1:c.239C>T, XM_011538173.2:c.1124C>T, XM_011538173.1:c.1124C>T, XM_011538174.2:c.1121C>T, XM_011538174.1:c.1121C>T, XM_011538176.2:c.1067C>T, XM_011538176.1:c.1067C>T, XM_017019179.2:c.1124C>T, XM_017019179.1:c.1124C>T, XM_011538183.2:c.1124C>T, XM_011538183.1:c.1124C>T, XM_011538178.2:c.905C>T, XM_011538178.1:c.905C>T, XM_011538184.2:c.1124C>T, XM_011538184.1:c.1124C>T, XM_011538179.2:c.1124C>T, XM_011538179.1:c.1124C>T, XM_024448938.2:c.1067C>T, XM_024448938.1:c.1067C>T, XM_011538180.2:c.791C>T, XM_011538180.1:c.791C>T, XM_011538181.2:c.788C>T, XM_011538181.1:c.788C>T, XM_047428700.1:c.*61C>T, NP_065434.1:p.Ala355Val, NP_001158162.1:p.Ala355Val, NP_001158163.1:p.Ala355Val, XP_011536488.1:p.Ala80Val, XP_011536475.1:p.Ala375Val, XP_011536476.1:p.Ala374Val, XP_011536478.1:p.Ala356Val, XP_016874668.1:p.Ala375Val, XP_011536485.1:p.Ala375Val, XP_011536480.1:p.Ala302Val, XP_011536486.1:p.Ala375Val, XP_011536481.1:p.Ala375Val, XP_024304706.1:p.Ala356Val, XP_011536482.1:p.Ala264Val, XP_011536483.1:p.Ala263Val

Select item 14742546209.

rs1474254620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53429459 (GRCh38)
12:53823243 (GRCh37)
Canonical SPDI:: NC_000012.12:53429458:A:G
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53429459A>G, NC_000012.11:g.53823243A>G, NG_015981.1:g.10605A>G, NM_020547.3:c.974A>G, NM_020547.2:c.974A>G, NM_001164690.2:c.974A>G, NM_001164690.1:c.974A>G, NM_001164691.2:c.974A>G, NM_001164691.1:c.974A>G, XM_011538186.4:c.149A>G, XM_011538186.3:c.149A>G, XM_011538186.2:c.149A>G, XM_011538186.1:c.149A>G, XM_011538173.2:c.1034A>G, XM_011538173.1:c.1034A>G, XM_011538174.2:c.1031A>G, XM_011538174.1:c.1031A>G, XM_011538176.2:c.977A>G, XM_011538176.1:c.977A>G, XM_017019179.2:c.1034A>G, XM_017019179.1:c.1034A>G, XM_011538183.2:c.1034A>G, XM_011538183.1:c.1034A>G, XM_011538178.2:c.815A>G, XM_011538178.1:c.815A>G, XM_011538184.2:c.1034A>G, XM_011538184.1:c.1034A>G, XM_011538179.2:c.1034A>G, XM_011538179.1:c.1034A>G, XM_024448938.2:c.977A>G, XM_024448938.1:c.977A>G, XM_011538180.2:c.701A>G, XM_011538180.1:c.701A>G, XM_011538181.2:c.698A>G, XM_011538181.1:c.698A>G, XM_047428700.1:c.862A>G, NP_065434.1:p.Tyr325Cys, NP_001158162.1:p.Tyr325Cys, NP_001158163.1:p.Tyr325Cys, XP_011536488.1:p.Tyr50Cys, XP_011536475.1:p.Tyr345Cys, XP_011536476.1:p.Tyr344Cys, XP_011536478.1:p.Tyr326Cys, XP_016874668.1:p.Tyr345Cys, XP_011536485.1:p.Tyr345Cys, XP_011536480.1:p.Tyr272Cys, XP_011536486.1:p.Tyr345Cys, XP_011536481.1:p.Tyr345Cys, XP_024304706.1:p.Tyr326Cys, XP_011536482.1:p.Tyr234Cys, XP_011536483.1:p.Tyr233Cys, XP_047284656.1:p.Ile288Val

Select item 147347252710.

rs1473472527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:53424442 (GRCh38)
12:53818226 (GRCh37)
Canonical SPDI:: NC_000012.12:53424441:C:A
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53424442C>A, NC_000012.11:g.53818226C>A, NG_015981.1:g.5588C>A, NM_020547.3:c.204C>A, NM_020547.2:c.204C>A, NM_001164690.2:c.204C>A, NM_001164690.1:c.204C>A, NM_001164691.2:c.204C>A, NM_001164691.1:c.204C>A, XM_011538173.2:c.204C>A, XM_011538173.1:c.204C>A, XM_011538174.2:c.204C>A, XM_011538174.1:c.204C>A, XM_011538176.2:c.204C>A, XM_011538176.1:c.204C>A, XM_017019179.2:c.204C>A, XM_017019179.1:c.204C>A, XM_011538183.2:c.204C>A, XM_011538183.1:c.204C>A, XM_011538178.2:c.204C>A, XM_011538178.1:c.204C>A, XM_011538184.2:c.204C>A, XM_011538184.1:c.204C>A, XM_011538179.2:c.204C>A, XM_011538179.1:c.204C>A, XM_024448938.2:c.204C>A, XM_024448938.1:c.204C>A, XM_011538185.2:c.204C>A, XM_011538185.1:c.204C>A, XM_047428700.1:c.204C>A

Select item 145527719511.

rs1455277195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53428949 (GRCh38)
12:53822733 (GRCh37)
Canonical SPDI:: NC_000012.12:53428948:G:A
Gene:: AMHR2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000012.12:g.53428949G>A, NC_000012.11:g.53822733G>A, NG_015981.1:g.10095G>A, NM_020547.3:c.906G>A, NM_020547.2:c.906G>A, NM_001164690.2:c.906G>A, NM_001164690.1:c.906G>A, NM_001164691.2:c.906G>A, NM_001164691.1:c.906G>A, XM_011538173.2:c.966G>A, XM_011538173.1:c.966G>A, XM_011538174.2:c.963G>A, XM_011538174.1:c.963G>A, XM_011538176.2:c.909G>A, XM_011538176.1:c.909G>A, XM_017019179.2:c.966G>A, XM_017019179.1:c.966G>A, XM_011538183.2:c.966G>A, XM_011538183.1:c.966G>A, XM_011538178.2:c.747G>A, XM_011538178.1:c.747G>A, XM_011538184.2:c.966G>A, XM_011538184.1:c.966G>A, XM_011538179.2:c.966G>A, XM_011538179.1:c.966G>A, XM_024448938.2:c.909G>A, XM_024448938.1:c.909G>A, XM_011538180.2:c.633G>A, XM_011538180.1:c.633G>A, XM_011538181.2:c.630G>A, XM_011538181.1:c.630G>A

Select item 145360276612.

rs1453602766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53424458 (GRCh38)
12:53818242 (GRCh37)
Canonical SPDI:: NC_000012.12:53424457:G:A
Gene:: AMHR2 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53424458G>A, NC_000012.11:g.53818242G>A, NG_015981.1:g.5604G>A, NM_020547.3:c.220G>A, NM_020547.2:c.220G>A, NM_001164690.2:c.220G>A, NM_001164690.1:c.220G>A, NM_001164691.2:c.220G>A, NM_001164691.1:c.220G>A, XM_011538173.2:c.220G>A, XM_011538173.1:c.220G>A, XM_011538174.2:c.220G>A, XM_011538174.1:c.220G>A, XM_011538176.2:c.220G>A, XM_011538176.1:c.220G>A, XM_017019179.2:c.220G>A, XM_017019179.1:c.220G>A, XM_011538183.2:c.220G>A, XM_011538183.1:c.220G>A, XM_011538178.2:c.220G>A, XM_011538178.1:c.220G>A, XM_011538184.2:c.220G>A, XM_011538184.1:c.220G>A, XM_011538179.2:c.220G>A, XM_011538179.1:c.220G>A, XM_024448938.2:c.220G>A, XM_024448938.1:c.220G>A, XM_011538185.2:c.220G>A, XM_011538185.1:c.220G>A, XM_047428700.1:c.220G>A, NP_065434.1:p.Val74Met, NP_001158162.1:p.Val74Met, NP_001158163.1:p.Val74Met, XP_011536475.1:p.Val74Met, XP_011536476.1:p.Val74Met, XP_011536478.1:p.Val74Met, XP_016874668.1:p.Val74Met, XP_011536485.1:p.Val74Met, XP_011536480.1:p.Val74Met, XP_011536486.1:p.Val74Met, XP_011536481.1:p.Val74Met, XP_024304706.1:p.Val74Met, XP_011536487.1:p.Val74Met, XP_047284656.1:p.Val74Met

Select item 145310275313.

rs1453102753 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:53428964 (GRCh38)
12:53822748 (GRCh37)
Canonical SPDI:: NC_000012.12:53428963:C:G,NC_000012.12:53428963:C:T
Gene:: AMHR2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53428964C>G, NC_000012.12:g.53428964C>T, NC_000012.11:g.53822748C>G, NC_000012.11:g.53822748C>T, NG_015981.1:g.10110C>G, NG_015981.1:g.10110C>T, NM_020547.3:c.921C>G, NM_020547.3:c.921C>T, NM_020547.2:c.921C>G, NM_020547.2:c.921C>T, NM_001164690.2:c.921C>G, NM_001164690.2:c.921C>T, NM_001164690.1:c.921C>G, NM_001164690.1:c.921C>T, NM_001164691.2:c.921C>G, NM_001164691.2:c.921C>T, NM_001164691.1:c.921C>G, NM_001164691.1:c.921C>T, XM_011538173.2:c.981C>G, XM_011538173.2:c.981C>T, XM_011538173.1:c.981C>G, XM_011538173.1:c.981C>T, XM_011538174.2:c.978C>G, XM_011538174.2:c.978C>T, XM_011538174.1:c.978C>G, XM_011538174.1:c.978C>T, XM_011538176.2:c.924C>G, XM_011538176.2:c.924C>T, XM_011538176.1:c.924C>G, XM_011538176.1:c.924C>T, XM_017019179.2:c.981C>G, XM_017019179.2:c.981C>T, XM_017019179.1:c.981C>G, XM_017019179.1:c.981C>T, XM_011538183.2:c.981C>G, XM_011538183.2:c.981C>T, XM_011538183.1:c.981C>G, XM_011538183.1:c.981C>T, XM_011538178.2:c.762C>G, XM_011538178.2:c.762C>T, XM_011538178.1:c.762C>G, XM_011538178.1:c.762C>T, XM_011538184.2:c.981C>G, XM_011538184.2:c.981C>T, XM_011538184.1:c.981C>G, XM_011538184.1:c.981C>T, XM_011538179.2:c.981C>G, XM_011538179.2:c.981C>T, XM_011538179.1:c.981C>G, XM_011538179.1:c.981C>T, XM_024448938.2:c.924C>G, XM_024448938.2:c.924C>T, XM_024448938.1:c.924C>G, XM_024448938.1:c.924C>T, XM_011538180.2:c.648C>G, XM_011538180.2:c.648C>T, XM_011538180.1:c.648C>G, XM_011538180.1:c.648C>T, XM_011538181.2:c.645C>G, XM_011538181.2:c.645C>T, XM_011538181.1:c.645C>G, XM_011538181.1:c.645C>T

Select item 145223491414.

rs1452234914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:53425733 (GRCh38)
12:53819517 (GRCh37)
Canonical SPDI:: NC_000012.12:53425732:G:A,NC_000012.12:53425732:G:T
Gene:: AMHR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53425733G>A, NC_000012.12:g.53425733G>T, NC_000012.11:g.53819517G>A, NC_000012.11:g.53819517G>T, NG_015981.1:g.6879G>A, NG_015981.1:g.6879G>T, NM_020547.3:c.666G>A, NM_020547.3:c.666G>T, NM_020547.2:c.666G>A, NM_020547.2:c.666G>T, NM_001164690.2:c.666G>A, NM_001164690.2:c.666G>T, NM_001164690.1:c.666G>A, NM_001164690.1:c.666G>T, NM_001164691.2:c.666G>A, NM_001164691.2:c.666G>T, NM_001164691.1:c.666G>A, NM_001164691.1:c.666G>T, XM_011538173.2:c.669G>A, XM_011538173.2:c.669G>T, XM_011538173.1:c.669G>A, XM_011538173.1:c.669G>T, XM_011538174.2:c.666G>A, XM_011538174.2:c.666G>T, XM_011538174.1:c.666G>A, XM_011538174.1:c.666G>T, XM_011538176.2:c.669G>A, XM_011538176.2:c.669G>T, XM_011538176.1:c.669G>A, XM_011538176.1:c.669G>T, XM_017019179.2:c.669G>A, XM_017019179.2:c.669G>T, XM_017019179.1:c.669G>A, XM_017019179.1:c.669G>T, XM_011538183.2:c.669G>A, XM_011538183.2:c.669G>T, XM_011538183.1:c.669G>A, XM_011538183.1:c.669G>T, XM_011538184.2:c.669G>A, XM_011538184.2:c.669G>T, XM_011538184.1:c.669G>A, XM_011538184.1:c.669G>T, XM_011538179.2:c.669G>A, XM_011538179.2:c.669G>T, XM_011538179.1:c.669G>A, XM_011538179.1:c.669G>T, XM_024448938.2:c.669G>A, XM_024448938.2:c.669G>T, XM_024448938.1:c.669G>A, XM_024448938.1:c.669G>T, XM_011538180.2:c.336G>A, XM_011538180.2:c.336G>T, XM_011538180.1:c.336G>A, XM_011538180.1:c.336G>T, XM_011538181.2:c.333G>A, XM_011538181.2:c.333G>T, XM_011538181.1:c.333G>A, XM_011538181.1:c.333G>T, XM_011538185.2:c.669G>A, XM_011538185.2:c.669G>T, XM_011538185.1:c.669G>A, XM_011538185.1:c.669G>T, XM_047428700.1:c.669G>A, XM_047428700.1:c.669G>T

Select item 144788620015.

rs1447886200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53425540 (GRCh38)
12:53819324 (GRCh37)
Canonical SPDI:: NC_000012.12:53425539:G:C
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53425540G>C, NC_000012.11:g.53819324G>C, NG_015981.1:g.6686G>C, NM_020547.3:c.588G>C, NM_020547.2:c.588G>C, NM_001164690.2:c.588G>C, NM_001164690.1:c.588G>C, NM_001164691.2:c.588G>C, NM_001164691.1:c.588G>C, XM_011538173.2:c.588G>C, XM_011538173.1:c.588G>C, XM_011538174.2:c.588G>C, XM_011538174.1:c.588G>C, XM_011538176.2:c.588G>C, XM_011538176.1:c.588G>C, XM_017019179.2:c.588G>C, XM_017019179.1:c.588G>C, XM_011538183.2:c.588G>C, XM_011538183.1:c.588G>C, XM_011538184.2:c.588G>C, XM_011538184.1:c.588G>C, XM_011538179.2:c.588G>C, XM_011538179.1:c.588G>C, XM_024448938.2:c.588G>C, XM_024448938.1:c.588G>C, XM_011538185.2:c.588G>C, XM_011538185.1:c.588G>C, XM_047428700.1:c.588G>C, NP_065434.1:p.Glu196Asp, NP_001158162.1:p.Glu196Asp, NP_001158163.1:p.Glu196Asp, XP_011536475.1:p.Glu196Asp, XP_011536476.1:p.Glu196Asp, XP_011536478.1:p.Glu196Asp, XP_016874668.1:p.Glu196Asp, XP_011536485.1:p.Glu196Asp, XP_011536486.1:p.Glu196Asp, XP_011536481.1:p.Glu196Asp, XP_024304706.1:p.Glu196Asp, XP_011536487.1:p.Glu196Asp, XP_047284656.1:p.Glu196Asp

Select item 144205054216.

rs1442050542 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53425717 (GRCh38)
12:53819501 (GRCh37)
Canonical SPDI:: NC_000012.12:53425716:T:C
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
HGVS:: NC_000012.12:g.53425717T>C, NC_000012.11:g.53819501T>C, NG_015981.1:g.6863T>C, NM_020547.3:c.650T>C, NM_020547.2:c.650T>C, NM_001164690.2:c.650T>C, NM_001164690.1:c.650T>C, NM_001164691.2:c.650T>C, NM_001164691.1:c.650T>C, XM_011538173.2:c.653T>C, XM_011538173.1:c.653T>C, XM_011538174.2:c.650T>C, XM_011538174.1:c.650T>C, XM_011538176.2:c.653T>C, XM_011538176.1:c.653T>C, XM_017019179.2:c.653T>C, XM_017019179.1:c.653T>C, XM_011538183.2:c.653T>C, XM_011538183.1:c.653T>C, XM_011538184.2:c.653T>C, XM_011538184.1:c.653T>C, XM_011538179.2:c.653T>C, XM_011538179.1:c.653T>C, XM_024448938.2:c.653T>C, XM_024448938.1:c.653T>C, XM_011538180.2:c.320T>C, XM_011538180.1:c.320T>C, XM_011538181.2:c.317T>C, XM_011538181.1:c.317T>C, XM_011538185.2:c.653T>C, XM_011538185.1:c.653T>C, XM_047428700.1:c.653T>C, NP_065434.1:p.Val217Ala, NP_001158162.1:p.Val217Ala, NP_001158163.1:p.Val217Ala, XP_011536475.1:p.Val218Ala, XP_011536476.1:p.Val217Ala, XP_011536478.1:p.Val218Ala, XP_016874668.1:p.Val218Ala, XP_011536485.1:p.Val218Ala, XP_011536486.1:p.Val218Ala, XP_011536481.1:p.Val218Ala, XP_024304706.1:p.Val218Ala, XP_011536482.1:p.Val107Ala, XP_011536483.1:p.Val106Ala, XP_011536487.1:p.Val218Ala, XP_047284656.1:p.Val218Ala

Select item 144130118017.

rs1441301180 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53429489 (GRCh38)
12:53823273 (GRCh37)
Canonical SPDI:: NC_000012.12:53429488:G:A
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53429489G>A, NC_000012.11:g.53823273G>A, NG_015981.1:g.10635G>A, NM_020547.3:c.1004G>A, NM_020547.2:c.1004G>A, NM_001164690.2:c.1004G>A, NM_001164690.1:c.1004G>A, NM_001164691.2:c.1004G>A, NM_001164691.1:c.1004G>A, XM_011538186.4:c.179G>A, XM_011538186.3:c.179G>A, XM_011538186.2:c.179G>A, XM_011538186.1:c.179G>A, XM_011538173.2:c.1064G>A, XM_011538173.1:c.1064G>A, XM_011538174.2:c.1061G>A, XM_011538174.1:c.1061G>A, XM_011538176.2:c.1007G>A, XM_011538176.1:c.1007G>A, XM_017019179.2:c.1064G>A, XM_017019179.1:c.1064G>A, XM_011538183.2:c.1064G>A, XM_011538183.1:c.1064G>A, XM_011538178.2:c.845G>A, XM_011538178.1:c.845G>A, XM_011538184.2:c.1064G>A, XM_011538184.1:c.1064G>A, XM_011538179.2:c.1064G>A, XM_011538179.1:c.1064G>A, XM_024448938.2:c.1007G>A, XM_024448938.1:c.1007G>A, XM_011538180.2:c.731G>A, XM_011538180.1:c.731G>A, XM_011538181.2:c.728G>A, XM_011538181.1:c.728G>A, XM_047428700.1:c.*1G>A, NP_065434.1:p.Ser335Asn, NP_001158162.1:p.Ser335Asn, NP_001158163.1:p.Ser335Asn, XP_011536488.1:p.Ser60Asn, XP_011536475.1:p.Ser355Asn, XP_011536476.1:p.Ser354Asn, XP_011536478.1:p.Ser336Asn, XP_016874668.1:p.Ser355Asn, XP_011536485.1:p.Ser355Asn, XP_011536480.1:p.Ser282Asn, XP_011536486.1:p.Ser355Asn, XP_011536481.1:p.Ser355Asn, XP_024304706.1:p.Ser336Asn, XP_011536482.1:p.Ser244Asn, XP_011536483.1:p.Ser243Asn

Select item 144118383218.

rs1441183832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53425492 (GRCh38)
12:53819276 (GRCh37)
Canonical SPDI:: NC_000012.12:53425491:G:C
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.53425492G>C, NC_000012.11:g.53819276G>C, NG_015981.1:g.6638G>C, NM_020547.3:c.540G>C, NM_020547.2:c.540G>C, NM_001164690.2:c.540G>C, NM_001164690.1:c.540G>C, NM_001164691.2:c.540G>C, NM_001164691.1:c.540G>C, XM_011538173.2:c.540G>C, XM_011538173.1:c.540G>C, XM_011538174.2:c.540G>C, XM_011538174.1:c.540G>C, XM_011538176.2:c.540G>C, XM_011538176.1:c.540G>C, XM_017019179.2:c.540G>C, XM_017019179.1:c.540G>C, XM_011538183.2:c.540G>C, XM_011538183.1:c.540G>C, XM_011538184.2:c.540G>C, XM_011538184.1:c.540G>C, XM_011538179.2:c.540G>C, XM_011538179.1:c.540G>C, XM_024448938.2:c.540G>C, XM_024448938.1:c.540G>C, XM_011538185.2:c.540G>C, XM_011538185.1:c.540G>C, XM_047428700.1:c.540G>C, NP_065434.1:p.Glu180Asp, NP_001158162.1:p.Glu180Asp, NP_001158163.1:p.Glu180Asp, XP_011536475.1:p.Glu180Asp, XP_011536476.1:p.Glu180Asp, XP_011536478.1:p.Glu180Asp, XP_016874668.1:p.Glu180Asp, XP_011536485.1:p.Glu180Asp, XP_011536486.1:p.Glu180Asp, XP_011536481.1:p.Glu180Asp, XP_024304706.1:p.Glu180Asp, XP_011536487.1:p.Glu180Asp, XP_047284656.1:p.Glu180Asp

Select item 143964767319.

rs1439647673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53425800 (GRCh38)
12:53819584 (GRCh37)
Canonical SPDI:: NC_000012.12:53425799:G:A
Gene:: AMHR2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53425800G>A, NC_000012.11:g.53819584G>A, NG_015981.1:g.6946G>A, NM_020547.3:c.733G>A, NM_020547.2:c.733G>A, NM_001164690.2:c.733G>A, NM_001164690.1:c.733G>A, NM_001164691.2:c.733G>A, NM_001164691.1:c.733G>A, XM_011538173.2:c.736G>A, XM_011538173.1:c.736G>A, XM_011538174.2:c.733G>A, XM_011538174.1:c.733G>A, XM_011538176.2:c.736G>A, XM_011538176.1:c.736G>A, XM_017019179.2:c.736G>A, XM_017019179.1:c.736G>A, XM_011538183.2:c.736G>A, XM_011538183.1:c.736G>A, XM_011538184.2:c.736G>A, XM_011538184.1:c.736G>A, XM_011538179.2:c.736G>A, XM_011538179.1:c.736G>A, XM_024448938.2:c.736G>A, XM_024448938.1:c.736G>A, XM_011538180.2:c.403G>A, XM_011538180.1:c.403G>A, XM_011538181.2:c.400G>A, XM_011538181.1:c.400G>A, XM_011538185.2:c.736G>A, XM_011538185.1:c.736G>A, XM_047428700.1:c.736G>A, NP_065434.1:p.Ala245Thr, NP_001158162.1:p.Ala245Thr, NP_001158163.1:p.Ala245Thr, XP_011536475.1:p.Ala246Thr, XP_011536476.1:p.Ala245Thr, XP_011536478.1:p.Ala246Thr, XP_016874668.1:p.Ala246Thr, XP_011536485.1:p.Ala246Thr, XP_011536486.1:p.Ala246Thr, XP_011536481.1:p.Ala246Thr, XP_024304706.1:p.Ala246Thr, XP_011536482.1:p.Ala135Thr, XP_011536483.1:p.Ala134Thr, XP_011536487.1:p.Ala246Thr, XP_047284656.1:p.Ala246Thr

Select item 143890689320.

rs1438906893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53428970 (GRCh38)
12:53822754 (GRCh37)
Canonical SPDI:: NC_000012.12:53428969:C:T
Gene:: AMHR2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53428970C>T, NC_000012.11:g.53822754C>T, NG_015981.1:g.10116C>T, NM_020547.3:c.927C>T, NM_020547.2:c.927C>T, NM_001164690.2:c.927C>T, NM_001164690.1:c.927C>T, NM_001164691.2:c.927C>T, NM_001164691.1:c.927C>T, XM_011538173.2:c.987C>T, XM_011538173.1:c.987C>T, XM_011538174.2:c.984C>T, XM_011538174.1:c.984C>T, XM_011538176.2:c.930C>T, XM_011538176.1:c.930C>T, XM_017019179.2:c.987C>T, XM_017019179.1:c.987C>T, XM_011538183.2:c.987C>T, XM_011538183.1:c.987C>T, XM_011538178.2:c.768C>T, XM_011538178.1:c.768C>T, XM_011538184.2:c.987C>T, XM_011538184.1:c.987C>T, XM_011538179.2:c.987C>T, XM_011538179.1:c.987C>T, XM_024448938.2:c.930C>T, XM_024448938.1:c.930C>T, XM_011538180.2:c.654C>T, XM_011538180.1:c.654C>T, XM_011538181.2:c.651C>T, XM_011538181.1:c.651C>T

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