SNP Links for Protein (Select 21536351) - SNP

Links from Protein

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Select item 14906966001.

rs1490696600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50078006 (GRCh38)
12:50471789 (GRCh37)
Canonical SPDI:: NC_000012.12:50078005:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_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.50078006C>T, NC_000012.11:g.50471789C>T, NM_020039.4:c.716C>T, NM_020039.3:c.716C>T, NM_001095.4:c.716C>T, NM_001095.3:c.716C>T, XM_011538351.3:c.809C>T, XM_011538351.2:c.809C>T, XM_011538351.1:c.809C>T, XM_011538350.2:c.809C>T, XM_011538350.1:c.809C>T, NR_046389.2:n.1135C>T, NR_046389.1:n.1094C>T, XM_011538352.2:c.716C>T, XM_011538352.1:c.716C>T, NM_001256830.1:c.818C>T, NP_064423.2:p.Thr239Met, NP_001086.2:p.Thr239Met, XP_011536653.1:p.Thr270Met, XP_011536652.1:p.Thr270Met, XP_011536654.1:p.Thr239Met, NP_001243759.1:p.Thr273Met

Select item 14855907112.

rs1485590711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50080546 (GRCh38)
12:50474329 (GRCh37)
Canonical SPDI:: NC_000012.12:50080545:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50080546G>A, NC_000012.11:g.50474329G>A, NM_020039.4:c.1254G>A, NM_020039.3:c.1254G>A, NM_001095.4:c.1254G>A, NM_001095.3:c.1254G>A, XM_011538351.3:c.1347G>A, XM_011538351.2:c.1347G>A, XM_011538351.1:c.1347G>A, XM_011538350.2:c.1350G>A, XM_011538350.1:c.1350G>A, NR_046389.2:n.1673G>A, NR_046389.1:n.1632G>A, XM_011538352.2:c.1257G>A, XM_011538352.1:c.1257G>A, NM_001256830.1:c.1356G>A

Select item 14851868113.

rs1485186811 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50080620 (GRCh38)
12:50474403 (GRCh37)
Canonical SPDI:: NC_000012.12:50080619:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50080620C>T, NC_000012.11:g.50474403C>T, NM_020039.4:c.1328C>T, NM_020039.3:c.1328C>T, NP_064423.2:p.Ser443Leu

Select item 14841027574.

rs1484102757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCA [Show Flanks]
Chromosome:: 12:50058977 (GRCh38)
12:50452761 (GRCh37)
Canonical SPDI:: NC_000012.12:50058977:ACCACCA:ACCACCACCA
Gene:: ASIC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,inframe_insertion,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: ACCACCACCA=0.000111/1 (ALFA)
ACC=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50058979CCA[3], NC_000012.11:g.50452762CCA[3], NM_020039.4:c.213CCA[3], NM_020039.3:c.213CCA[3], NM_001095.4:c.213CCA[3], NM_001095.3:c.213CCA[3], XM_011538351.3:c.213CCA[3], XM_011538351.2:c.213CCA[3], XM_011538351.1:c.213CCA[3], XM_011538350.2:c.213CCA[3], XM_011538350.1:c.213CCA[3], NR_046389.2:n.550CCA[3], NR_046389.1:n.509CCA[3], XM_011538352.2:c.213CCA[3], XM_011538352.1:c.213CCA[3], NP_064423.2:p.His73dup, NP_001086.2:p.His73dup, XP_011536653.1:p.His73dup, XP_011536652.1:p.His73dup, XP_011536654.1:p.His73dup

Select item 14836767695.

rs1483676769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50077284 (GRCh38)
12:50471067 (GRCh37)
Canonical SPDI:: NC_000012.12:50077283:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.50077284G>A, NC_000012.11:g.50471067G>A, NM_020039.4:c.630G>A, NM_020039.3:c.630G>A, NM_001095.4:c.630G>A, NM_001095.3:c.630G>A, XM_011538351.3:c.723G>A, XM_011538351.2:c.723G>A, XM_011538351.1:c.723G>A, XM_011538350.2:c.723G>A, XM_011538350.1:c.723G>A, NR_046389.2:n.1049G>A, NR_046389.1:n.1008G>A, XM_011538352.2:c.630G>A, XM_011538352.1:c.630G>A, NM_001256830.1:c.732G>A, NP_064423.2:p.Met210Ile, NP_001086.2:p.Met210Ile, XP_011536653.1:p.Met241Ile, XP_011536652.1:p.Met241Ile, XP_011536654.1:p.Met210Ile, NP_001243759.1:p.Met244Ile

Select item 14780500946.

rs1478050094 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50058883 (GRCh38)
12:50452666 (GRCh37)
Canonical SPDI:: NC_000012.12:50058882:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50058883G>A, NC_000012.11:g.50452666G>A, NM_020039.4:c.117G>A, NM_020039.3:c.117G>A, NM_001095.4:c.117G>A, NM_001095.3:c.117G>A, XM_011538351.3:c.117G>A, XM_011538351.2:c.117G>A, XM_011538351.1:c.117G>A, XM_011538350.2:c.117G>A, XM_011538350.1:c.117G>A, NR_046389.2:n.454G>A, NR_046389.1:n.413G>A, XM_011538352.2:c.117G>A, XM_011538352.1:c.117G>A

Select item 14708237407.

rs1470823740 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:50059779 (GRCh38)
12:50453562 (GRCh37)
Canonical SPDI:: NC_000012.12:50059778:A:G
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000012.12:g.50059779A>G, NC_000012.11:g.50453562A>G, NM_020039.4:c.383A>G, NM_020039.3:c.383A>G, NM_001095.4:c.383A>G, NM_001095.3:c.383A>G, XM_011538351.3:c.383A>G, XM_011538351.2:c.383A>G, XM_011538351.1:c.383A>G, XM_011538350.2:c.383A>G, XM_011538350.1:c.383A>G, NR_046389.2:n.720A>G, NR_046389.1:n.679A>G, XM_011538352.2:c.383A>G, XM_011538352.1:c.383A>G, NP_064423.2:p.Gln128Arg, NP_001086.2:p.Gln128Arg, XP_011536653.1:p.Gln128Arg, XP_011536652.1:p.Gln128Arg, XP_011536654.1:p.Gln128Arg

Select item 14706954078.

rs1470695407 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50078549 (GRCh38)
12:50472332 (GRCh37)
Canonical SPDI:: NC_000012.12:50078548:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_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.50078549C>T, NC_000012.11:g.50472332C>T, NM_020039.4:c.966C>T, NM_020039.3:c.966C>T, NM_001095.4:c.966C>T, NM_001095.3:c.966C>T, XM_011538351.3:c.1059C>T, XM_011538351.2:c.1059C>T, XM_011538351.1:c.1059C>T, XM_011538350.2:c.1062C>T, XM_011538350.1:c.1062C>T, NR_046389.2:n.1385C>T, NR_046389.1:n.1344C>T, XM_011538352.2:c.969C>T, XM_011538352.1:c.969C>T, NM_001256830.1:c.1068C>T

Select item 14685658909.

rs1468565890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50058995 (GRCh38)
12:50452778 (GRCh37)
Canonical SPDI:: NC_000012.12:50058994:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,non_coding_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.50058995C>T, NC_000012.11:g.50452778C>T, NM_020039.4:c.229C>T, NM_020039.3:c.229C>T, NM_001095.4:c.229C>T, NM_001095.3:c.229C>T, XM_011538351.3:c.229C>T, XM_011538351.2:c.229C>T, XM_011538351.1:c.229C>T, XM_011538350.2:c.229C>T, XM_011538350.1:c.229C>T, NR_046389.2:n.566C>T, NR_046389.1:n.525C>T, XM_011538352.2:c.229C>T, XM_011538352.1:c.229C>T, NP_064423.2:p.Leu77Phe, NP_001086.2:p.Leu77Phe, XP_011536653.1:p.Leu77Phe, XP_011536652.1:p.Leu77Phe, XP_011536654.1:p.Leu77Phe

Select item 146744495010.

rs1467444950 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50081322 (GRCh38)
12:50475105 (GRCh37)
Canonical SPDI:: NC_000012.12:50081321:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000012.12:g.50081322G>A, NC_000012.11:g.50475105G>A, NM_020039.4:c.1578G>A, NM_020039.3:c.1578G>A, NM_001095.4:c.1440G>A, NM_001095.3:c.1440G>A, XM_011538351.3:c.1533G>A, XM_011538351.2:c.1533G>A, XM_011538351.1:c.1533G>A, XM_011538350.2:c.1536G>A, XM_011538350.1:c.1536G>A, NR_046389.2:n.1859G>A, NR_046389.1:n.1818G>A, XM_011538352.2:c.1443G>A, XM_011538352.1:c.1443G>A, NM_001256830.1:c.1542G>A

Select item 146619255811.

rs1466192558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:50081130 (GRCh38)
12:50474913 (GRCh37)
Canonical SPDI:: NC_000012.12:50081129:C:G,NC_000012.12:50081129:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50081130C>G, NC_000012.12:g.50081130C>T, NC_000012.11:g.50474913C>G, NC_000012.11:g.50474913C>T, NM_020039.4:c.1464C>G, NM_020039.4:c.1464C>T, NM_020039.3:c.1464C>G, NM_020039.3:c.1464C>T, NM_001095.4:c.1326C>G, NM_001095.4:c.1326C>T, NM_001095.3:c.1326C>G, NM_001095.3:c.1326C>T, XM_011538351.3:c.1419C>G, XM_011538351.3:c.1419C>T, XM_011538351.2:c.1419C>G, XM_011538351.2:c.1419C>T, XM_011538351.1:c.1419C>G, XM_011538351.1:c.1419C>T, XM_011538350.2:c.1422C>G, XM_011538350.2:c.1422C>T, XM_011538350.1:c.1422C>G, XM_011538350.1:c.1422C>T, NR_046389.2:n.1745C>G, NR_046389.2:n.1745C>T, NR_046389.1:n.1704C>G, NR_046389.1:n.1704C>T, XM_011538352.2:c.1329C>G, XM_011538352.2:c.1329C>T, XM_011538352.1:c.1329C>G, XM_011538352.1:c.1329C>T, NM_001256830.1:c.1428C>G, NM_001256830.1:c.1428C>T, NP_064423.2:p.Phe488Leu, NP_001086.2:p.Phe442Leu, XP_011536653.1:p.Phe473Leu, XP_011536652.1:p.Phe474Leu, XP_011536654.1:p.Phe443Leu, NP_001243759.1:p.Phe476Leu

Select item 146500382812.

rs1465003828 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:50078450 (GRCh38)
12:50472233 (GRCh37)
Canonical SPDI:: NC_000012.12:50078449:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50078450C>T, NC_000012.11:g.50472233C>T, NM_020039.4:c.867C>T, NM_020039.3:c.867C>T, NM_001095.4:c.867C>T, NM_001095.3:c.867C>T, XM_011538351.3:c.960C>T, XM_011538351.2:c.960C>T, XM_011538351.1:c.960C>T, XM_011538350.2:c.963C>T, XM_011538350.1:c.963C>T, NR_046389.2:n.1286C>T, NR_046389.1:n.1245C>T, XM_011538352.2:c.870C>T, XM_011538352.1:c.870C>T, NM_001256830.1:c.969C>T

Select item 146489449813.

rs1464894498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50081118 (GRCh38)
12:50474901 (GRCh37)
Canonical SPDI:: NC_000012.12:50081117:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000013/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50081118G>A, NC_000012.11:g.50474901G>A, NM_020039.4:c.1452G>A, NM_020039.3:c.1452G>A, NM_001095.4:c.1314G>A, NM_001095.3:c.1314G>A, XM_011538351.3:c.1407G>A, XM_011538351.2:c.1407G>A, XM_011538351.1:c.1407G>A, XM_011538350.2:c.1410G>A, XM_011538350.1:c.1410G>A, NR_046389.2:n.1733G>A, NR_046389.1:n.1692G>A, XM_011538352.2:c.1317G>A, XM_011538352.1:c.1317G>A, NM_001256830.1:c.1416G>A

Select item 145805768414.

rs1458057684 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:50080688 (GRCh38)
12:50474471 (GRCh37)
Canonical SPDI:: NC_000012.12:50080687:C:A,NC_000012.12:50080687:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_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.50080688C>A, NC_000012.12:g.50080688C>T, NC_000012.11:g.50474471C>A, NC_000012.11:g.50474471C>T, NM_020039.4:c.1396C>A, NM_020039.4:c.1396C>T, NM_020039.3:c.1396C>A, NM_020039.3:c.1396C>T, NP_064423.2:p.Pro466Thr, NP_064423.2:p.Pro466Ser

Select item 145618193215.

rs1456181932 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50079938 (GRCh38)
12:50473721 (GRCh37)
Canonical SPDI:: NC_000012.12:50079937:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50079938G>A, NC_000012.11:g.50473721G>A, NM_020039.4:c.1088G>A, NM_020039.3:c.1088G>A, NM_001095.4:c.1088G>A, NM_001095.3:c.1088G>A, XM_011538351.3:c.1181G>A, XM_011538351.2:c.1181G>A, XM_011538351.1:c.1181G>A, XM_011538350.2:c.1184G>A, XM_011538350.1:c.1184G>A, NR_046389.2:n.1507G>A, NR_046389.1:n.1466G>A, XM_011538352.2:c.1091G>A, XM_011538352.1:c.1091G>A, NM_001256830.1:c.1190G>A, NP_064423.2:p.Cys363Tyr, NP_001086.2:p.Cys363Tyr, XP_011536653.1:p.Cys394Tyr, XP_011536652.1:p.Cys395Tyr, XP_011536654.1:p.Cys364Tyr, NP_001243759.1:p.Cys397Tyr

Select item 145428057216.

rs1454280572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:50081590 (GRCh38)
12:50475373 (GRCh37)
Canonical SPDI:: NC_000012.12:50081589:G:T
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50081590G>T, NC_000012.11:g.50475373G>T, NM_020039.4:c.1666G>T, NM_020039.3:c.1666G>T, NM_001095.4:c.1528G>T, NM_001095.3:c.1528G>T, XM_011538351.3:c.1621G>T, XM_011538351.2:c.1621G>T, XM_011538351.1:c.1621G>T, XM_011538350.2:c.1624G>T, XM_011538350.1:c.1624G>T, NR_046389.2:n.1947G>T, NR_046389.1:n.1906G>T, XM_011538352.2:c.1531G>T, XM_011538352.1:c.1531G>T, NM_001256830.1:c.1630G>T, NP_064423.2:p.Ala556Ser, NP_001086.2:p.Ala510Ser, XP_011536653.1:p.Ala541Ser, XP_011536652.1:p.Ala542Ser, XP_011536654.1:p.Ala511Ser, NP_001243759.1:p.Ala544Ser

Select item 145395968717.

rs1453959687 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:50081584 (GRCh38)
12:50475367 (GRCh37)
Canonical SPDI:: NC_000012.12:50081583:A:T
Gene:: ASIC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50081584A>T, NC_000012.11:g.50475367A>T, NM_020039.4:c.1660A>T, NM_020039.3:c.1660A>T, NM_001095.4:c.1522A>T, NM_001095.3:c.1522A>T, XM_011538351.3:c.1615A>T, XM_011538351.2:c.1615A>T, XM_011538351.1:c.1615A>T, XM_011538350.2:c.1618A>T, XM_011538350.1:c.1618A>T, NR_046389.2:n.1941A>T, NR_046389.1:n.1900A>T, XM_011538352.2:c.1525A>T, XM_011538352.1:c.1525A>T, NM_001256830.1:c.1624A>T, NP_064423.2:p.Thr554Ser, NP_001086.2:p.Thr508Ser, XP_011536653.1:p.Thr539Ser, XP_011536652.1:p.Thr540Ser, XP_011536654.1:p.Thr509Ser, NP_001243759.1:p.Thr542Ser

Select item 145248918618.

rs1452489186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:50059120 (GRCh38)
12:50452903 (GRCh37)
Canonical SPDI:: NC_000012.12:50059119:C:G,NC_000012.12:50059119:C:T
Gene:: ASIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.50059120C>G, NC_000012.12:g.50059120C>T, NC_000012.11:g.50452903C>G, NC_000012.11:g.50452903C>T, NM_020039.4:c.354C>G, NM_020039.4:c.354C>T, NM_020039.3:c.354C>G, NM_020039.3:c.354C>T, NM_001095.4:c.354C>G, NM_001095.4:c.354C>T, NM_001095.3:c.354C>G, NM_001095.3:c.354C>T, XM_011538351.3:c.354C>G, XM_011538351.3:c.354C>T, XM_011538351.2:c.354C>G, XM_011538351.2:c.354C>T, XM_011538351.1:c.354C>G, XM_011538351.1:c.354C>T, XM_011538350.2:c.354C>G, XM_011538350.2:c.354C>T, XM_011538350.1:c.354C>G, XM_011538350.1:c.354C>T, NR_046389.2:n.691C>G, NR_046389.2:n.691C>T, NR_046389.1:n.650C>G, NR_046389.1:n.650C>T, XM_011538352.2:c.354C>G, XM_011538352.2:c.354C>T, XM_011538352.1:c.354C>G, XM_011538352.1:c.354C>T

Select item 145085709519.

rs1450857095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:50058798 (GRCh38)
12:50452581 (GRCh37)
Canonical SPDI:: NC_000012.12:50058797:G:A
Gene:: ASIC1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.50058798G>A, NC_000012.11:g.50452581G>A, NM_020039.4:c.32G>A, NM_020039.3:c.32G>A, NM_001095.4:c.32G>A, NM_001095.3:c.32G>A, XM_011538351.3:c.32G>A, XM_011538351.2:c.32G>A, XM_011538351.1:c.32G>A, XM_011538350.2:c.32G>A, XM_011538350.1:c.32G>A, NR_046389.2:n.369G>A, NR_046389.1:n.328G>A, XM_011538352.2:c.32G>A, XM_011538352.1:c.32G>A, NP_064423.2:p.Gly11Asp, NP_001086.2:p.Gly11Asp, XP_011536653.1:p.Gly11Asp, XP_011536652.1:p.Gly11Asp, XP_011536654.1:p.Gly11Asp

Select item 144805766920.

rs1448057669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 12:50078540 (GRCh38)
12:50472323 (GRCh37)
Canonical SPDI:: NC_000012.12:50078539:G:C,NC_000012.12:50078539:G:T
Gene:: ASIC1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.50078540G>C, NC_000012.12:g.50078540G>T, NC_000012.11:g.50472323G>C, NC_000012.11:g.50472323G>T, NM_020039.4:c.957G>C, NM_020039.4:c.957G>T, NM_020039.3:c.957G>C, NM_020039.3:c.957G>T, NM_001095.4:c.957G>C, NM_001095.4:c.957G>T, NM_001095.3:c.957G>C, NM_001095.3:c.957G>T, XM_011538351.3:c.1050G>C, XM_011538351.3:c.1050G>T, XM_011538351.2:c.1050G>C, XM_011538351.2:c.1050G>T, XM_011538351.1:c.1050G>C, XM_011538351.1:c.1050G>T, XM_011538350.2:c.1053G>C, XM_011538350.2:c.1053G>T, XM_011538350.1:c.1053G>C, XM_011538350.1:c.1053G>T, NR_046389.2:n.1376G>C, NR_046389.2:n.1376G>T, NR_046389.1:n.1335G>C, NR_046389.1:n.1335G>T, XM_011538352.2:c.960G>C, XM_011538352.2:c.960G>T, XM_011538352.1:c.960G>C, XM_011538352.1:c.960G>T, NM_001256830.1:c.1059G>C, NM_001256830.1:c.1059G>T

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