SNP Links for Protein (Select 1034651544) - SNP

Links from Protein

Items: 1 to 20 of 257

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Select item 14909992451.

rs1490999245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28088629 (GRCh38)
6:28056407 (GRCh37)
Canonical SPDI:: NC_000006.12:28088628:G:A
Gene:: ZNF165 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000028/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28088629G>A, NC_000006.11:g.28056407G>A, NM_003447.4:c.617G>A, NM_003447.3:c.617G>A, XM_017011261.3:c.95G>A, XM_017011261.2:c.95G>A, XM_017011261.1:c.95G>A, NM_001376493.1:c.617G>A, NM_001376492.1:c.617G>A, NM_001376491.1:c.617G>A, NM_001376494.1:c.41G>A, NP_003438.1:p.Arg206Lys, XP_016866750.1:p.Arg32Lys, NP_001363422.1:p.Arg206Lys, NP_001363421.1:p.Arg206Lys, NP_001363420.1:p.Arg206Lys, NP_001363423.1:p.Arg14Lys

Select item 14900622642.

rs1490062264 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28088874 (GRCh38)
6:28056652 (GRCh37)
Canonical SPDI:: NC_000006.12:28088873:C:T
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28088874C>T, NC_000006.11:g.28056652C>T, NM_003447.4:c.862C>T, NM_003447.3:c.862C>T, XM_017011261.3:c.340C>T, XM_017011261.2:c.340C>T, XM_017011261.1:c.340C>T, NM_001376493.1:c.862C>T, NM_001376492.1:c.862C>T, NM_001376491.1:c.862C>T, NM_001376494.1:c.286C>T, NP_003438.1:p.His288Tyr, XP_016866750.1:p.His114Tyr, NP_001363422.1:p.His288Tyr, NP_001363421.1:p.His288Tyr, NP_001363420.1:p.His288Tyr, NP_001363423.1:p.His96Tyr

Select item 14798930023.

rs1479893002 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:28088809 (GRCh38)
6:28056587 (GRCh37)
Canonical SPDI:: NC_000006.12:28088808:G:C
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28088809G>C, NC_000006.11:g.28056587G>C, NM_003447.4:c.797G>C, NM_003447.3:c.797G>C, XM_017011261.3:c.275G>C, XM_017011261.2:c.275G>C, XM_017011261.1:c.275G>C, NM_001376493.1:c.797G>C, NM_001376492.1:c.797G>C, NM_001376491.1:c.797G>C, NM_001376494.1:c.221G>C, NP_003438.1:p.Arg266Thr, XP_016866750.1:p.Arg92Thr, NP_001363422.1:p.Arg266Thr, NP_001363421.1:p.Arg266Thr, NP_001363420.1:p.Arg266Thr, NP_001363423.1:p.Arg74Thr

Select item 14741133384.

rs1474113338 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28088720 (GRCh38)
6:28056498 (GRCh37)
Canonical SPDI:: NC_000006.12:28088719:A:G
Gene:: ZNF165 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28088720A>G, NC_000006.11:g.28056498A>G, NM_003447.4:c.708A>G, NM_003447.3:c.708A>G, XM_017011261.3:c.186A>G, XM_017011261.2:c.186A>G, XM_017011261.1:c.186A>G, NM_001376493.1:c.708A>G, NM_001376492.1:c.708A>G, NM_001376491.1:c.708A>G, NM_001376494.1:c.132A>G

Select item 14663127325.

rs1466312732 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAA>- [Show Flanks]
Chromosome:: 6:28088821 (GRCh38)
6:28056599 (GRCh37)
Canonical SPDI:: NC_000006.12:28088815:AATAATAA:AATAA
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AATAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28088818TAA[1], NC_000006.11:g.28056596TAA[1], NM_003447.4:c.806TAA[1], NM_003447.3:c.806TAA[1], XM_017011261.3:c.284TAA[1], XM_017011261.2:c.284TAA[1], XM_017011261.1:c.284TAA[1], NM_001376493.1:c.806TAA[1], NM_001376492.1:c.806TAA[1], NM_001376491.1:c.806TAA[1], NM_001376494.1:c.230TAA[1], NP_003438.1:p.Ile270del, XP_016866750.1:p.Ile96del, NP_001363422.1:p.Ile270del, NP_001363421.1:p.Ile270del, NP_001363420.1:p.Ile270del, NP_001363423.1:p.Ile78del

Select item 14661737546.

rs1466173754 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28088663 (GRCh38)
6:28056441 (GRCh37)
Canonical SPDI:: NC_000006.12:28088662:A:G
Gene:: ZNF165 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28088663A>G, NC_000006.11:g.28056441A>G, NM_003447.4:c.651A>G, NM_003447.3:c.651A>G, XM_017011261.3:c.129A>G, XM_017011261.2:c.129A>G, XM_017011261.1:c.129A>G, NM_001376493.1:c.651A>G, NM_001376492.1:c.651A>G, NM_001376491.1:c.651A>G, NM_001376494.1:c.75A>G

Select item 14625135167.

rs1462513516 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGCA [Show Flanks]
Chromosome:: 6:28089016 (GRCh38)
6:28056795 (GRCh37)
Canonical SPDI:: NC_000006.12:28089016:AGCA:AGCAAGCA
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGCAAGCA=0./0 (ALFA)
AGCA=0.000007/1 (GnomAD)
AGCA=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.28089017_28089020dup, NC_000006.11:g.28056795_28056798dup, NM_003447.4:c.1005_1008dup, NM_003447.3:c.1005_1008dup, XM_017011261.3:c.483_486dup, XM_017011261.2:c.483_486dup, XM_017011261.1:c.483_486dup, NM_001376493.1:c.1005_1008dup, NM_001376492.1:c.1005_1008dup, NM_001376491.1:c.1005_1008dup, NM_001376494.1:c.429_432dup, NP_003438.1:p.Val337fs, XP_016866750.1:p.Val163fs, NP_001363422.1:p.Val337fs, NP_001363421.1:p.Val337fs, NP_001363420.1:p.Val337fs, NP_001363423.1:p.Val145fs

Select item 14585747408.

rs1458574740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28089041 (GRCh38)
6:28056819 (GRCh37)
Canonical SPDI:: NC_000006.12:28089040:T:C
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28089041T>C, NC_000006.11:g.28056819T>C, NM_003447.4:c.1029T>C, NM_003447.3:c.1029T>C, XM_017011261.3:c.507T>C, XM_017011261.2:c.507T>C, XM_017011261.1:c.507T>C, NM_001376493.1:c.1029T>C, NM_001376492.1:c.1029T>C, NM_001376491.1:c.1029T>C, NM_001376494.1:c.453T>C

Select item 14552590149.

rs1455259014 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28088918 (GRCh38)
6:28056696 (GRCh37)
Canonical SPDI:: NC_000006.12:28088917:A:G
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28088918A>G, NC_000006.11:g.28056696A>G, NM_003447.4:c.906A>G, NM_003447.3:c.906A>G, XM_017011261.3:c.384A>G, XM_017011261.2:c.384A>G, XM_017011261.1:c.384A>G, NM_001376493.1:c.906A>G, NM_001376492.1:c.906A>G, NM_001376491.1:c.906A>G, NM_001376494.1:c.330A>G

Select item 144422465110.

rs1444224651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:28089458 (GRCh38)
6:28057236 (GRCh37)
Canonical SPDI:: NC_000006.12:28089457:C:T
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28089458C>T, NC_000006.11:g.28057236C>T, NM_003447.4:c.1446C>T, NM_003447.3:c.1446C>T, XM_017011261.3:c.924C>T, XM_017011261.2:c.924C>T, XM_017011261.1:c.924C>T, NM_001376493.1:c.1446C>T, NM_001376492.1:c.1446C>T, NM_001376491.1:c.1446C>T, NM_001376494.1:c.870C>T

Select item 144415960511.

rs1444159605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28089030 (GRCh38)
6:28056808 (GRCh37)
Canonical SPDI:: NC_000006.12:28089029:G:A
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.28089030G>A, NC_000006.11:g.28056808G>A, NM_003447.4:c.1018G>A, NM_003447.3:c.1018G>A, XM_017011261.3:c.496G>A, XM_017011261.2:c.496G>A, XM_017011261.1:c.496G>A, NM_001376493.1:c.1018G>A, NM_001376492.1:c.1018G>A, NM_001376491.1:c.1018G>A, NM_001376494.1:c.442G>A, NP_003438.1:p.Gly340Arg, XP_016866750.1:p.Gly166Arg, NP_001363422.1:p.Gly340Arg, NP_001363421.1:p.Gly340Arg, NP_001363420.1:p.Gly340Arg, NP_001363423.1:p.Gly148Arg

Select item 144399013912.

rs1443990139 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:28089038 (GRCh38)
6:28056816 (GRCh37)
Canonical SPDI:: NC_000006.12:28089037:A:T
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.28089038A>T, NC_000006.11:g.28056816A>T, NM_003447.4:c.1026A>T, NM_003447.3:c.1026A>T, XM_017011261.3:c.504A>T, XM_017011261.2:c.504A>T, XM_017011261.1:c.504A>T, NM_001376493.1:c.1026A>T, NM_001376492.1:c.1026A>T, NM_001376491.1:c.1026A>T, NM_001376494.1:c.450A>T, NP_003438.1:p.Lys342Asn, XP_016866750.1:p.Lys168Asn, NP_001363422.1:p.Lys342Asn, NP_001363421.1:p.Lys342Asn, NP_001363420.1:p.Lys342Asn, NP_001363423.1:p.Lys150Asn

Select item 144200871813.

rs1442008718 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:28089225 (GRCh38)
6:28057003 (GRCh37)
Canonical SPDI:: NC_000006.12:28089224:T:C
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000042/11 (TOPMED)
C=0.000043/6 (GnomAD)
HGVS:: NC_000006.12:g.28089225T>C, NC_000006.11:g.28057003T>C, NM_003447.4:c.1213T>C, NM_003447.3:c.1213T>C, XM_017011261.3:c.691T>C, XM_017011261.2:c.691T>C, XM_017011261.1:c.691T>C, NM_001376493.1:c.1213T>C, NM_001376492.1:c.1213T>C, NM_001376491.1:c.1213T>C, NM_001376494.1:c.637T>C, NP_003438.1:p.Cys405Arg, XP_016866750.1:p.Cys231Arg, NP_001363422.1:p.Cys405Arg, NP_001363421.1:p.Cys405Arg, NP_001363420.1:p.Cys405Arg, NP_001363423.1:p.Cys213Arg

Select item 142949140014.

rs1429491400 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:28089236 (GRCh38)
6:28057014 (GRCh37)
Canonical SPDI:: NC_000006.12:28089235:A:G
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.28089236A>G, NC_000006.11:g.28057014A>G, NM_003447.4:c.1224A>G, NM_003447.3:c.1224A>G, XM_017011261.3:c.702A>G, XM_017011261.2:c.702A>G, XM_017011261.1:c.702A>G, NM_001376493.1:c.1224A>G, NM_001376492.1:c.1224A>G, NM_001376491.1:c.1224A>G, NM_001376494.1:c.648A>G

Select item 142787194515.

rs1427871945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:28088786 (GRCh38)
6:28056564 (GRCh37)
Canonical SPDI:: NC_000006.12:28088785:C:A
Gene:: ZNF165 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28088786C>A, NC_000006.11:g.28056564C>A, NM_003447.4:c.774C>A, NM_003447.3:c.774C>A, XM_017011261.3:c.252C>A, XM_017011261.2:c.252C>A, XM_017011261.1:c.252C>A, NM_001376493.1:c.774C>A, NM_001376492.1:c.774C>A, NM_001376491.1:c.774C>A, NM_001376494.1:c.198C>A

Select item 142758826716.

rs1427588267 has merged into rs1334551534 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 6:28088962 (GRCh38)
6:28056740 (GRCh37)
Canonical SPDI:: NC_000006.12:28088961:AAAAAAA:AAAAAA,NC_000006.12:28088961:AAAAAAA:AAAAAAAA
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.28088968del, NC_000006.12:g.28088968dup, NC_000006.11:g.28056746del, NC_000006.11:g.28056746dup, NM_003447.4:c.956del, NM_003447.4:c.956dup, NM_003447.3:c.956del, NM_003447.3:c.956dup, XM_017011261.3:c.434del, XM_017011261.3:c.434dup, XM_017011261.2:c.434del, XM_017011261.2:c.434dup, XM_017011261.1:c.434del, XM_017011261.1:c.434dup, NM_001376493.1:c.956del, NM_001376493.1:c.956dup, NM_001376492.1:c.956del, NM_001376492.1:c.956dup, NM_001376491.1:c.956del, NM_001376491.1:c.956dup, NM_001376494.1:c.380del, NM_001376494.1:c.380dup, NP_003438.1:p.Asn319fs, NP_003438.1:p.Asn319fs, XP_016866750.1:p.Asn145fs, XP_016866750.1:p.Asn145fs, NP_001363422.1:p.Asn319fs, NP_001363422.1:p.Asn319fs, NP_001363421.1:p.Asn319fs, NP_001363421.1:p.Asn319fs, NP_001363420.1:p.Asn319fs, NP_001363420.1:p.Asn319fs, NP_001363423.1:p.Asn127fs, NP_001363423.1:p.Asn127fs

Select item 142441866017.

rs1424418660 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28089133 (GRCh38)
6:28056911 (GRCh37)
Canonical SPDI:: NC_000006.12:28089132:G:A
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.28089133G>A, NC_000006.11:g.28056911G>A, NM_003447.4:c.1121G>A, NM_003447.3:c.1121G>A, XM_017011261.3:c.599G>A, XM_017011261.2:c.599G>A, XM_017011261.1:c.599G>A, NM_001376493.1:c.1121G>A, NM_001376492.1:c.1121G>A, NM_001376491.1:c.1121G>A, NM_001376494.1:c.545G>A, NP_003438.1:p.Cys374Tyr, XP_016866750.1:p.Cys200Tyr, NP_001363422.1:p.Cys374Tyr, NP_001363421.1:p.Cys374Tyr, NP_001363420.1:p.Cys374Tyr, NP_001363423.1:p.Cys182Tyr

Select item 142403376518.

rs1424033765 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCAGATAT [Show Flanks]
Chromosome:: 6:28088932 (GRCh38)
6:28056711 (GRCh37)
Canonical SPDI:: NC_000006.12:28088932:T:TCCAGATAT
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: frameshift_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000006.12:g.28088933_28088934insCCAGATAT, NC_000006.11:g.28056711_28056712insCCAGATAT, NM_003447.4:c.921_922insCCAGATAT, NM_003447.3:c.921_922insCCAGATAT, XM_017011261.3:c.399_400insCCAGATAT, XM_017011261.2:c.399_400insCCAGATAT, XM_017011261.1:c.399_400insCCAGATAT, NM_001376493.1:c.921_922insCCAGATAT, NM_001376492.1:c.921_922insCCAGATAT, NM_001376491.1:c.921_922insCCAGATAT, NM_001376494.1:c.345_346insCCAGATAT, NP_003438.1:p.Ile308fs, XP_016866750.1:p.Ile134fs, NP_001363422.1:p.Ile308fs, NP_001363421.1:p.Ile308fs, NP_001363420.1:p.Ile308fs, NP_001363423.1:p.Ile116fs

Select item 142282292819.

rs1422822928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:28089271 (GRCh38)
6:28057049 (GRCh37)
Canonical SPDI:: NC_000006.12:28089270:G:A
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.28089271G>A, NC_000006.11:g.28057049G>A, NM_003447.4:c.1259G>A, NM_003447.3:c.1259G>A, XM_017011261.3:c.737G>A, XM_017011261.2:c.737G>A, XM_017011261.1:c.737G>A, NM_001376493.1:c.1259G>A, NM_001376492.1:c.1259G>A, NM_001376491.1:c.1259G>A, NM_001376494.1:c.683G>A, NP_003438.1:p.Arg420Lys, XP_016866750.1:p.Arg246Lys, NP_001363422.1:p.Arg420Lys, NP_001363421.1:p.Arg420Lys, NP_001363420.1:p.Arg420Lys, NP_001363423.1:p.Arg228Lys

Select item 142014302820.

rs1420143028 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 6:28088962 (GRCh38)
6:28056740 (GRCh37)
Canonical SPDI:: NC_000006.12:28088961:A:C,NC_000006.12:28088961:A:G
Gene:: ZNF165 (Varview), ZSCAN12P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.28088962A>C, NC_000006.12:g.28088962A>G, NC_000006.11:g.28056740A>C, NC_000006.11:g.28056740A>G, NM_003447.4:c.950A>C, NM_003447.4:c.950A>G, NM_003447.3:c.950A>C, NM_003447.3:c.950A>G, XM_017011261.3:c.428A>C, XM_017011261.3:c.428A>G, XM_017011261.2:c.428A>C, XM_017011261.2:c.428A>G, XM_017011261.1:c.428A>C, XM_017011261.1:c.428A>G, NM_001376493.1:c.950A>C, NM_001376493.1:c.950A>G, NM_001376492.1:c.950A>C, NM_001376492.1:c.950A>G, NM_001376491.1:c.950A>C, NM_001376491.1:c.950A>G, NM_001376494.1:c.374A>C, NM_001376494.1:c.374A>G, NP_003438.1:p.Glu317Ala, NP_003438.1:p.Glu317Gly, XP_016866750.1:p.Glu143Ala, XP_016866750.1:p.Glu143Gly, NP_001363422.1:p.Glu317Ala, NP_001363422.1:p.Glu317Gly, NP_001363421.1:p.Glu317Ala, NP_001363421.1:p.Glu317Gly, NP_001363420.1:p.Glu317Ala, NP_001363420.1:p.Glu317Gly, NP_001363423.1:p.Glu125Ala, NP_001363423.1:p.Glu125Gly

dbSNP

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