SNP Links for Protein (Select 1034594729) - SNP

Select item 14894477661.

rs1489447766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2528486 (GRCh38)
16:2578487 (GRCh37)
Canonical SPDI:: NC_000016.10:2528485:G:A
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2528486G>A, NC_000016.9:g.2578487G>A, NM_015944.4:c.897G>A, NM_015944.3:c.897G>A, XM_017023267.3:c.189G>A, XM_017023267.2:c.189G>A, XM_017023267.1:c.189G>A, XM_017023264.3:c.897G>A, XM_017023266.3:c.408G>A, XM_017023266.2:c.408G>A, XM_017023266.1:c.408G>A, NM_001330449.2:c.897G>A, NM_001330449.1:c.897G>A, NM_001145815.2:c.897G>A, NM_001145815.1:c.897G>A, NM_001410943.1:c.897G>A, XM_047434190.1:c.408G>A

Select item 14886331542.

rs1488633154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2528311 (GRCh38)
16:2578312 (GRCh37)
Canonical SPDI:: NC_000016.10:2528310:G:A
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2528311G>A, NC_000016.9:g.2578312G>A, NM_015944.4:c.793G>A, NM_015944.3:c.793G>A, XM_017023267.3:c.85G>A, XM_017023267.2:c.85G>A, XM_017023267.1:c.85G>A, XM_017023264.3:c.793G>A, XM_017023266.3:c.304G>A, XM_017023266.2:c.304G>A, XM_017023266.1:c.304G>A, NM_001330449.2:c.793G>A, NM_001330449.1:c.793G>A, NM_001145815.2:c.793G>A, NM_001145815.1:c.793G>A, NM_001410943.1:c.793G>A, XM_047434190.1:c.304G>A, NP_057028.2:p.Gly265Arg, XP_016878756.1:p.Gly29Arg, XP_016878753.1:p.Gly265Arg, XP_016878755.1:p.Gly102Arg, NP_001317378.1:p.Gly265Arg, NP_001139287.1:p.Gly265Arg, XP_047290146.1:p.Gly102Arg

Select item 14880103803.

rs1488010380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:2528265 (GRCh38)
16:2578266 (GRCh37)
Canonical SPDI:: NC_000016.10:2528264:G:C
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2528265G>C, NC_000016.9:g.2578266G>C, NM_015944.4:c.747G>C, NM_015944.3:c.747G>C, XM_017023267.3:c.39G>C, XM_017023267.2:c.39G>C, XM_017023267.1:c.39G>C, XM_017023264.3:c.747G>C, XM_017023266.3:c.258G>C, XM_017023266.2:c.258G>C, XM_017023266.1:c.258G>C, NM_001330449.2:c.747G>C, NM_001330449.1:c.747G>C, NM_001145815.2:c.747G>C, NM_001145815.1:c.747G>C, NM_001410943.1:c.747G>C, XM_047434190.1:c.258G>C

Select item 14771618014.

rs1477161801 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2528495 (GRCh38)
16:2578496 (GRCh37)
Canonical SPDI:: NC_000016.10:2528494:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2528495C>T, NC_000016.9:g.2578496C>T, NM_015944.4:c.906C>T, NM_015944.3:c.906C>T, XM_017023267.3:c.198C>T, XM_017023267.2:c.198C>T, XM_017023267.1:c.198C>T, XM_017023264.3:c.906C>T, XM_017023266.3:c.417C>T, XM_017023266.2:c.417C>T, XM_017023266.1:c.417C>T, NM_001330449.2:c.906C>T, NM_001330449.1:c.906C>T, NM_001145815.2:c.906C>T, NM_001145815.1:c.906C>T, NM_001410943.1:c.906C>T, XM_047434190.1:c.417C>T

Select item 14743850395.

rs1474385039 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2529531 (GRCh38)
16:2579532 (GRCh37)
Canonical SPDI:: NC_000016.10:2529530:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_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_000016.10:g.2529531C>T, NC_000016.9:g.2579532C>T, NM_015944.4:c.1288C>T, NM_015944.3:c.1288C>T, XM_017023267.3:c.580C>T, XM_017023267.2:c.580C>T, XM_017023267.1:c.580C>T, XM_017023264.3:c.1129C>T, XM_017023266.3:c.799C>T, XM_017023266.2:c.799C>T, XM_017023266.1:c.799C>T, NM_001330449.2:c.1198C>T, NM_001330449.1:c.1198C>T, NM_001410943.1:c.1129C>T, XM_047434190.1:c.709C>T

Select item 14727852026.

rs1472785202 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2528374 (GRCh38)
16:2578375 (GRCh37)
Canonical SPDI:: NC_000016.10:2528373:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.2528374C>T, NC_000016.9:g.2578375C>T, NM_015944.4:c.856C>T, NM_015944.3:c.856C>T, XM_017023267.3:c.148C>T, XM_017023267.2:c.148C>T, XM_017023267.1:c.148C>T, XM_017023264.3:c.856C>T, XM_017023266.3:c.367C>T, XM_017023266.2:c.367C>T, XM_017023266.1:c.367C>T, NM_001330449.2:c.856C>T, NM_001330449.1:c.856C>T, NM_001145815.2:c.856C>T, NM_001145815.1:c.856C>T, NM_001410943.1:c.856C>T, XM_047434190.1:c.367C>T, NP_057028.2:p.Pro286Ser, XP_016878756.1:p.Pro50Ser, XP_016878753.1:p.Pro286Ser, XP_016878755.1:p.Pro123Ser, NP_001317378.1:p.Pro286Ser, NP_001139287.1:p.Pro286Ser, XP_047290146.1:p.Pro123Ser

Select item 14726788787.

rs1472678878 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:2529079 (GRCh38)
16:2579080 (GRCh37)
Canonical SPDI:: NC_000016.10:2529078:C:G,NC_000016.10:2529078:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000026/7 (TOPMED)
G=0.00006/1 (TOMMO)
HGVS:: NC_000016.10:g.2529079C>G, NC_000016.10:g.2529079C>T, NC_000016.9:g.2579080C>G, NC_000016.9:g.2579080C>T, NM_015944.4:c.1215C>G, NM_015944.4:c.1215C>T, NM_015944.3:c.1215C>G, NM_015944.3:c.1215C>T, XM_017023267.3:c.507C>G, XM_017023267.3:c.507C>T, XM_017023267.2:c.507C>G, XM_017023267.2:c.507C>T, XM_017023267.1:c.507C>G, XM_017023267.1:c.507C>T, XM_017023264.3:c.1056C>G, XM_017023264.3:c.1056C>T, XM_017023266.3:c.726C>G, XM_017023266.3:c.726C>T, XM_017023266.2:c.726C>G, XM_017023266.2:c.726C>T, XM_017023266.1:c.726C>G, XM_017023266.1:c.726C>T, NM_001330449.2:c.1125C>G, NM_001330449.2:c.1125C>T, NM_001330449.1:c.1125C>G, NM_001330449.1:c.1125C>T, NM_001145815.2:c.1215C>G, NM_001145815.2:c.1215C>T, NM_001145815.1:c.1215C>G, NM_001145815.1:c.1215C>T, NM_001410943.1:c.1056C>G, NM_001410943.1:c.1056C>T, XM_047434190.1:c.636C>G, XM_047434190.1:c.636C>T, NP_057028.2:p.Asp405Glu, XP_016878756.1:p.Asp169Glu, XP_016878753.1:p.Asp352Glu, XP_016878755.1:p.Asp242Glu, NP_001317378.1:p.Asp375Glu, NP_001139287.1:p.Asp405Glu, XP_047290146.1:p.Asp212Glu

Select item 14704684718.

rs1470468471 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2528565 (GRCh38)
16:2578566 (GRCh37)
Canonical SPDI:: NC_000016.10:2528564:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.2528565C>T, NC_000016.9:g.2578566C>T, NM_015944.4:c.976C>T, NM_015944.3:c.976C>T, XM_017023267.3:c.268C>T, XM_017023267.2:c.268C>T, XM_017023267.1:c.268C>T, XM_017023266.3:c.487C>T, XM_017023266.2:c.487C>T, XM_017023266.1:c.487C>T, NM_001145815.2:c.976C>T, NM_001145815.1:c.976C>T, NP_057028.2:p.Arg326Cys, XP_016878756.1:p.Arg90Cys, XP_016878755.1:p.Arg163Cys, NP_001139287.1:p.Arg326Cys

Select item 14673102809.

rs1467310280 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2529549 (GRCh38)
16:2579550 (GRCh37)
Canonical SPDI:: NC_000016.10:2529548:G:A
Gene:: AMDHD2 (Varview), CEMP1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2529549G>A, NC_000016.9:g.2579550G>A, NM_015944.4:c.1306G>A, NM_015944.3:c.1306G>A, XM_017023267.3:c.598G>A, XM_017023267.2:c.598G>A, XM_017023267.1:c.598G>A, XM_017023264.3:c.1147G>A, XM_017023266.3:c.817G>A, XM_017023266.2:c.817G>A, XM_017023266.1:c.817G>A, NM_001330449.2:c.1216G>A, NM_001330449.1:c.1216G>A, NM_001410943.1:c.1147G>A, XM_047434190.1:c.727G>A, NP_057028.2:p.Ala436Thr, XP_016878756.1:p.Ala200Thr, XP_016878753.1:p.Ala383Thr, XP_016878755.1:p.Ala273Thr, NP_001317378.1:p.Ala406Thr, XP_047290146.1:p.Ala243Thr

Select item 146214708610.

rs1462147086 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:2529081 (GRCh38)
16:2579082 (GRCh37)
Canonical SPDI:: NC_000016.10:2529080:T:C
Gene:: AMDHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.2529081T>C, NC_000016.9:g.2579082T>C, NM_015944.4:c.1217T>C, NM_015944.3:c.1217T>C, XM_017023267.3:c.509T>C, XM_017023267.2:c.509T>C, XM_017023267.1:c.509T>C, XM_017023264.3:c.1058T>C, XM_017023266.3:c.728T>C, XM_017023266.2:c.728T>C, XM_017023266.1:c.728T>C, NM_001330449.2:c.1127T>C, NM_001330449.1:c.1127T>C, NM_001145815.2:c.1217T>C, NM_001145815.1:c.1217T>C, NM_001410943.1:c.1058T>C, XM_047434190.1:c.638T>C, NP_057028.2:p.Phe406Ser, XP_016878756.1:p.Phe170Ser, XP_016878753.1:p.Phe353Ser, XP_016878755.1:p.Phe243Ser, NP_001317378.1:p.Phe376Ser, NP_001139287.1:p.Phe406Ser, XP_047290146.1:p.Phe213Ser

Select item 145737102611.

rs1457371026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2528599 (GRCh38)
16:2578600 (GRCh37)
Canonical SPDI:: NC_000016.10:2528598:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000024/6 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2528599C>T, NC_000016.9:g.2578600C>T, NM_015944.4:c.1010C>T, NM_015944.3:c.1010C>T, XM_017023267.3:c.302C>T, XM_017023267.2:c.302C>T, XM_017023267.1:c.302C>T, XM_017023266.3:c.521C>T, XM_017023266.2:c.521C>T, XM_017023266.1:c.521C>T, NM_001145815.2:c.1010C>T, NM_001145815.1:c.1010C>T, NP_057028.2:p.Ala337Val, XP_016878756.1:p.Ala101Val, XP_016878755.1:p.Ala174Val, NP_001139287.1:p.Ala337Val

Select item 145729016212.

rs1457290162 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 16:2529562 (GRCh38)
16:2579563 (GRCh37)
Canonical SPDI:: NC_000016.10:2529561:G:
Gene:: AMDHD2 (Varview), CEMP1 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant,terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: -=0.000111/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2529562del, NC_000016.9:g.2579563del, NM_015944.4:c.1319del, NM_015944.3:c.1319del, XM_017023267.3:c.611del, XM_017023267.2:c.611del, XM_017023267.1:c.611del, XM_017023264.3:c.1160del, XM_017023266.3:c.830del, XM_017023266.2:c.830del, XM_017023266.1:c.830del, NM_001330449.2:c.1229del, NM_001330449.1:c.1229del, NM_001410943.1:c.1160del, XM_047434190.1:c.740del, NP_057028.2:p.Ter440TyrextTer?, XP_016878756.1:p.Ter204TyrextTer?, XP_016878753.1:p.Ter387TyrextTer?, XP_016878755.1:p.Ter277TyrextTer?, NP_001317378.1:p.Ter410TyrextTer?, XP_047290146.1:p.Ter247TyrextTer?

Select item 145259712213.

rs1452597122 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2529496 (GRCh38)
16:2579497 (GRCh37)
Canonical SPDI:: NC_000016.10:2529495:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.2529496C>T, NC_000016.9:g.2579497C>T, NM_015944.4:c.1253C>T, NM_015944.3:c.1253C>T, XM_017023267.3:c.545C>T, XM_017023267.2:c.545C>T, XM_017023267.1:c.545C>T, XM_017023264.3:c.1094C>T, XM_017023266.3:c.764C>T, XM_017023266.2:c.764C>T, XM_017023266.1:c.764C>T, NM_001330449.2:c.1163C>T, NM_001330449.1:c.1163C>T, NM_001145815.2:c.1253C>T, NM_001145815.1:c.1253C>T, NM_001410943.1:c.1094C>T, XM_047434190.1:c.674C>T, NP_057028.2:p.Ser418Phe, XP_016878756.1:p.Ser182Phe, XP_016878753.1:p.Ser365Phe, XP_016878755.1:p.Ser255Phe, NP_001317378.1:p.Ser388Phe, NP_001139287.1:p.Ser418Phe, XP_047290146.1:p.Ser225Phe

Select item 144899816814.

rs1448998168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:2529490 (GRCh38)
16:2579491 (GRCh37)
Canonical SPDI:: NC_000016.10:2529489:A:G
Gene:: AMDHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2529490A>G, NC_000016.9:g.2579491A>G, NM_015944.4:c.1247A>G, NM_015944.3:c.1247A>G, XM_017023267.3:c.539A>G, XM_017023267.2:c.539A>G, XM_017023267.1:c.539A>G, XM_017023264.3:c.1088A>G, XM_017023266.3:c.758A>G, XM_017023266.2:c.758A>G, XM_017023266.1:c.758A>G, NM_001330449.2:c.1157A>G, NM_001330449.1:c.1157A>G, NM_001145815.2:c.1247A>G, NM_001145815.1:c.1247A>G, NM_001410943.1:c.1088A>G, XM_047434190.1:c.668A>G, NP_057028.2:p.Asp416Gly, XP_016878756.1:p.Asp180Gly, XP_016878753.1:p.Asp363Gly, XP_016878755.1:p.Asp253Gly, NP_001317378.1:p.Asp386Gly, NP_001139287.1:p.Asp416Gly, XP_047290146.1:p.Asp223Gly

Select item 144432982715.

rs1444329827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:2529086 (GRCh38)
16:2579087 (GRCh37)
Canonical SPDI:: NC_000016.10:2529085:G:A
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.2529086G>A, NC_000016.9:g.2579087G>A, NM_015944.4:c.1222G>A, NM_015944.3:c.1222G>A, XM_017023267.3:c.514G>A, XM_017023267.2:c.514G>A, XM_017023267.1:c.514G>A, XM_017023264.3:c.1063G>A, XM_017023266.3:c.733G>A, XM_017023266.2:c.733G>A, XM_017023266.1:c.733G>A, NM_001330449.2:c.1132G>A, NM_001330449.1:c.1132G>A, NM_001145815.2:c.1222G>A, NM_001145815.1:c.1222G>A, NM_001410943.1:c.1063G>A, XM_047434190.1:c.643G>A, NP_057028.2:p.Ala408Thr, XP_016878756.1:p.Ala172Thr, XP_016878753.1:p.Ala355Thr, XP_016878755.1:p.Ala245Thr, NP_001317378.1:p.Ala378Thr, NP_001139287.1:p.Ala408Thr, XP_047290146.1:p.Ala215Thr

Select item 144406240716.

rs1444062407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:2528641 (GRCh38)
16:2578642 (GRCh37)
Canonical SPDI:: NC_000016.10:2528640:G:A,NC_000016.10:2528640:G:C
Gene:: AMDHD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000016.10:g.2528641G>A, NC_000016.10:g.2528641G>C, NC_000016.9:g.2578642G>A, NC_000016.9:g.2578642G>C, NM_015944.4:c.1052G>A, NM_015944.4:c.1052G>C, NM_015944.3:c.1052G>A, NM_015944.3:c.1052G>C, XM_017023267.3:c.344G>A, XM_017023267.3:c.344G>C, XM_017023267.2:c.344G>A, XM_017023267.2:c.344G>C, XM_017023267.1:c.344G>A, XM_017023267.1:c.344G>C, XM_017023266.3:c.563G>A, XM_017023266.3:c.563G>C, XM_017023266.2:c.563G>A, XM_017023266.2:c.563G>C, XM_017023266.1:c.563G>A, XM_017023266.1:c.563G>C, NM_001145815.2:c.1052G>A, NM_001145815.2:c.1052G>C, NM_001145815.1:c.1052G>A, NM_001145815.1:c.1052G>C, NP_057028.2:p.Cys351Tyr, NP_057028.2:p.Cys351Ser, XP_016878756.1:p.Cys115Tyr, XP_016878756.1:p.Cys115Ser, XP_016878755.1:p.Cys188Tyr, XP_016878755.1:p.Cys188Ser, NP_001139287.1:p.Cys351Tyr, NP_001139287.1:p.Cys351Ser

Select item 144163809617.

rs1441638096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:2529003 (GRCh38)
16:2579004 (GRCh37)
Canonical SPDI:: NC_000016.10:2529002:T:A
Gene:: AMDHD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2529003T>A, NC_000016.9:g.2579004T>A, NM_015944.4:c.1139T>A, NM_015944.3:c.1139T>A, XM_017023267.3:c.431T>A, XM_017023267.2:c.431T>A, XM_017023267.1:c.431T>A, XM_017023264.3:c.980T>A, XM_017023266.3:c.650T>A, XM_017023266.2:c.650T>A, XM_017023266.1:c.650T>A, NM_001330449.2:c.1049T>A, NM_001330449.1:c.1049T>A, NM_001145815.2:c.1139T>A, NM_001145815.1:c.1139T>A, NM_001410943.1:c.980T>A, XM_047434190.1:c.560T>A, NP_057028.2:p.Met380Lys, XP_016878756.1:p.Met144Lys, XP_016878753.1:p.Met327Lys, XP_016878755.1:p.Met217Lys, NP_001317378.1:p.Met350Lys, NP_001139287.1:p.Met380Lys, XP_047290146.1:p.Met187Lys

Select item 142395733118.

rs1423957331 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:2528349 (GRCh38)
16:2578350 (GRCh37)
Canonical SPDI:: NC_000016.10:2528348:C:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.2528349C>T, NC_000016.9:g.2578350C>T, NM_015944.4:c.831C>T, NM_015944.3:c.831C>T, XM_017023267.3:c.123C>T, XM_017023267.2:c.123C>T, XM_017023267.1:c.123C>T, XM_017023264.3:c.831C>T, XM_017023266.3:c.342C>T, XM_017023266.2:c.342C>T, XM_017023266.1:c.342C>T, NM_001330449.2:c.831C>T, NM_001330449.1:c.831C>T, NM_001145815.2:c.831C>T, NM_001145815.1:c.831C>T, NM_001410943.1:c.831C>T, XM_047434190.1:c.342C>T

Select item 142374192119.

rs1423741921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:2528340 (GRCh38)
16:2578341 (GRCh37)
Canonical SPDI:: NC_000016.10:2528339:C:A
Gene:: AMDHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.2528340C>A, NC_000016.9:g.2578341C>A, NM_015944.4:c.822C>A, NM_015944.3:c.822C>A, XM_017023267.3:c.114C>A, XM_017023267.2:c.114C>A, XM_017023267.1:c.114C>A, XM_017023264.3:c.822C>A, XM_017023266.3:c.333C>A, XM_017023266.2:c.333C>A, XM_017023266.1:c.333C>A, NM_001330449.2:c.822C>A, NM_001330449.1:c.822C>A, NM_001145815.2:c.822C>A, NM_001145815.1:c.822C>A, NM_001410943.1:c.822C>A, XM_047434190.1:c.333C>A, NP_057028.2:p.Asn274Lys, XP_016878756.1:p.Asn38Lys, XP_016878753.1:p.Asn274Lys, XP_016878755.1:p.Asn111Lys, NP_001317378.1:p.Asn274Lys, NP_001139287.1:p.Asn274Lys, XP_047290146.1:p.Asn111Lys

Select item 141626287420.

rs1416262874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:2529071 (GRCh38)
16:2579072 (GRCh37)
Canonical SPDI:: NC_000016.10:2529070:A:T
Gene:: AMDHD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.2529071A>T, NC_000016.9:g.2579072A>T, NM_015944.4:c.1207A>T, NM_015944.3:c.1207A>T, XM_017023267.3:c.499A>T, XM_017023267.2:c.499A>T, XM_017023267.1:c.499A>T, XM_017023264.3:c.1048A>T, XM_017023266.3:c.718A>T, XM_017023266.2:c.718A>T, XM_017023266.1:c.718A>T, NM_001330449.2:c.1117A>T, NM_001330449.1:c.1117A>T, NM_001145815.2:c.1207A>T, NM_001145815.1:c.1207A>T, NM_001410943.1:c.1048A>T, XM_047434190.1:c.628A>T, NP_057028.2:p.Thr403Ser, XP_016878756.1:p.Thr167Ser, XP_016878753.1:p.Thr350Ser, XP_016878755.1:p.Thr240Ser, NP_001317378.1:p.Thr373Ser, NP_001139287.1:p.Thr403Ser, XP_047290146.1:p.Thr210Ser

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Result Filters

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 252

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