SNP Links for Protein (Select 196115290) - SNP

Links from Protein

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Select item 14890549771.

rs1489054977 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44913386 (GRCh38)
17:42990754 (GRCh37)
Canonical SPDI:: NC_000017.11:44913385:A:G
Gene:: GFAP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44913386A>G, NC_000017.10:g.42990754A>G, NG_008401.1:g.7161T>C, NM_002055.5:c.663T>C, NM_002055.4:c.663T>C, NM_001242376.3:c.663T>C, NM_001242376.2:c.663T>C, NM_001242376.1:c.663T>C, NM_001131019.3:c.663T>C, NM_001131019.2:c.663T>C, NM_001363846.2:c.663T>C, NM_001363846.1:c.663T>C

Select item 14887292632.

rs1488729263 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44911680 (GRCh38)
17:42989048 (GRCh37)
Canonical SPDI:: NC_000017.11:44911679:G:A
Gene:: GFAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44911680G>A, NC_000017.10:g.42989048G>A, NG_008401.1:g.8867C>T, NM_002055.5:c.898C>T, NM_002055.4:c.898C>T, NM_001242376.3:c.898C>T, NM_001242376.2:c.898C>T, NM_001242376.1:c.898C>T, NM_001131019.3:c.898C>T, NM_001131019.2:c.898C>T, NM_001363846.2:c.898C>T, NM_001363846.1:c.898C>T, NP_002046.1:p.Arg300Cys, NP_001229305.1:p.Arg300Cys, NP_001124491.1:p.Arg300Cys, NP_001350775.1:p.Arg300Cys

Select item 14821816993.

rs1482181699 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44915212 (GRCh38)
17:42992580 (GRCh37)
Canonical SPDI:: NC_000017.11:44915211:T:C
Gene:: GFAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44915212T>C, NC_000017.10:g.42992580T>C, NG_008401.1:g.5335A>G, NM_002055.5:c.275A>G, NM_002055.4:c.275A>G, NM_001242376.3:c.275A>G, NM_001242376.2:c.275A>G, NM_001242376.1:c.275A>G, NM_001131019.3:c.275A>G, NM_001131019.2:c.275A>G, NM_001363846.2:c.275A>G, NM_001363846.1:c.275A>G, NP_002046.1:p.Gln92Arg, NP_001229305.1:p.Gln92Arg, NP_001124491.1:p.Gln92Arg, NP_001350775.1:p.Gln92Arg

Select item 14819456434.

rs1481945643 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:44913805 (GRCh38)
17:42991173 (GRCh37)
Canonical SPDI:: NC_000017.11:44913804:GGG:GG
Gene:: GFAP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44913807del, NC_000017.10:g.42991175del, NG_008401.1:g.6742del, NM_002055.5:c.541del, NM_002055.4:c.541del, NM_001242376.3:c.541del, NM_001242376.2:c.541del, NM_001242376.1:c.541del, NM_001131019.3:c.541del, NM_001131019.2:c.541del, NM_001363846.2:c.541del, NM_001363846.1:c.541del, NP_002046.1:p.Leu181fs, NP_001229305.1:p.Leu181fs, NP_001124491.1:p.Leu181fs, NP_001350775.1:p.Leu181fs

Select item 14763769175.

rs1476376917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44915464 (GRCh38)
17:42992832 (GRCh37)
Canonical SPDI:: NC_000017.11:44915463:G:A
Gene:: GFAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000017.11:g.44915464G>A, NC_000017.10:g.42992832G>A, NG_008401.1:g.5083C>T, NM_002055.5:c.23C>T, NM_002055.4:c.23C>T, NM_001242376.3:c.23C>T, NM_001242376.2:c.23C>T, NM_001242376.1:c.23C>T, NM_001131019.3:c.23C>T, NM_001131019.2:c.23C>T, NM_001363846.2:c.23C>T, NM_001363846.1:c.23C>T, NP_002046.1:p.Ser8Phe, NP_001229305.1:p.Ser8Phe, NP_001124491.1:p.Ser8Phe, NP_001350775.1:p.Ser8Phe

Select item 14756979266.

rs1475697926 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 17:44915336 (GRCh38)
17:42992704 (GRCh37)
Canonical SPDI:: NC_000017.11:44915335:C:A,NC_000017.11:44915335:C:T
Gene:: GFAP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
HGVS:: NC_000017.11:g.44915336C>A, NC_000017.11:g.44915336C>T, NC_000017.10:g.42992704C>A, NC_000017.10:g.42992704C>T, NG_008401.1:g.5211G>T, NG_008401.1:g.5211G>A, NM_002055.5:c.151G>T, NM_002055.5:c.151G>A, NM_002055.4:c.151G>T, NM_002055.4:c.151G>A, NM_001242376.3:c.151G>T, NM_001242376.3:c.151G>A, NM_001242376.2:c.151G>T, NM_001242376.2:c.151G>A, NM_001242376.1:c.151G>T, NM_001242376.1:c.151G>A, NM_001131019.3:c.151G>T, NM_001131019.3:c.151G>A, NM_001131019.2:c.151G>T, NM_001131019.2:c.151G>A, NM_001363846.2:c.151G>T, NM_001363846.2:c.151G>A, NM_001363846.1:c.151G>T, NM_001363846.1:c.151G>A, NP_002046.1:p.Asp51Tyr, NP_002046.1:p.Asp51Asn, NP_001229305.1:p.Asp51Tyr, NP_001229305.1:p.Asp51Asn, NP_001124491.1:p.Asp51Tyr, NP_001124491.1:p.Asp51Asn, NP_001350775.1:p.Asp51Tyr, NP_001350775.1:p.Asp51Asn

Select item 14731496727.

rs1473149672 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:44915439 (GRCh38)
17:42992807 (GRCh37)
Canonical SPDI:: NC_000017.11:44915438:GG:G
Gene:: GFAP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44915440del, NC_000017.10:g.42992808del, NG_008401.1:g.5108del, NM_002055.5:c.48del, NM_002055.4:c.48del, NM_001242376.3:c.48del, NM_001242376.2:c.48del, NM_001242376.1:c.48del, NM_001131019.3:c.48del, NM_001131019.2:c.48del, NM_001363846.2:c.48del, NM_001363846.1:c.48del, NP_002046.1:p.Ser17fs, NP_001229305.1:p.Ser17fs, NP_001124491.1:p.Ser17fs, NP_001350775.1:p.Ser17fs

Select item 14697415428.

rs1469741542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 17:44915419 (GRCh38)
17:42992787 (GRCh37)
Canonical SPDI:: NC_000017.11:44915418:C:A,NC_000017.11:44915418:C:G,NC_000017.11:44915418:C:T
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.44915419C>A, NC_000017.11:g.44915419C>G, NC_000017.11:g.44915419C>T, NC_000017.10:g.42992787C>A, NC_000017.10:g.42992787C>G, NC_000017.10:g.42992787C>T, NG_008401.1:g.5128G>T, NG_008401.1:g.5128G>C, NG_008401.1:g.5128G>A, NM_002055.5:c.68G>T, NM_002055.5:c.68G>C, NM_002055.5:c.68G>A, NM_002055.4:c.68G>T, NM_002055.4:c.68G>C, NM_002055.4:c.68G>A, NM_001242376.3:c.68G>T, NM_001242376.3:c.68G>C, NM_001242376.3:c.68G>A, NM_001242376.2:c.68G>T, NM_001242376.2:c.68G>C, NM_001242376.2:c.68G>A, NM_001242376.1:c.68G>T, NM_001242376.1:c.68G>C, NM_001242376.1:c.68G>A, NM_001131019.3:c.68G>T, NM_001131019.3:c.68G>C, NM_001131019.3:c.68G>A, NM_001131019.2:c.68G>T, NM_001131019.2:c.68G>C, NM_001131019.2:c.68G>A, NM_001363846.2:c.68G>T, NM_001363846.2:c.68G>C, NM_001363846.2:c.68G>A, NM_001363846.1:c.68G>T, NM_001363846.1:c.68G>C, NM_001363846.1:c.68G>A, NP_002046.1:p.Gly23Val, NP_002046.1:p.Gly23Ala, NP_002046.1:p.Gly23Glu, NP_001229305.1:p.Gly23Val, NP_001229305.1:p.Gly23Ala, NP_001229305.1:p.Gly23Glu, NP_001124491.1:p.Gly23Val, NP_001124491.1:p.Gly23Ala, NP_001124491.1:p.Gly23Glu, NP_001350775.1:p.Gly23Val, NP_001350775.1:p.Gly23Ala, NP_001350775.1:p.Gly23Glu

Select item 14637571829.

rs1463757182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:44913766 (GRCh38)
17:42991134 (GRCh37)
Canonical SPDI:: NC_000017.11:44913765:C:G,NC_000017.11:44913765:C:T
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44913766C>G, NC_000017.11:g.44913766C>T, NC_000017.10:g.42991134C>G, NC_000017.10:g.42991134C>T, NG_008401.1:g.6781G>C, NG_008401.1:g.6781G>A, NM_002055.5:c.580G>C, NM_002055.5:c.580G>A, NM_002055.4:c.580G>C, NM_002055.4:c.580G>A, NM_001242376.3:c.580G>C, NM_001242376.3:c.580G>A, NM_001242376.2:c.580G>C, NM_001242376.2:c.580G>A, NM_001242376.1:c.580G>C, NM_001242376.1:c.580G>A, NM_001131019.3:c.580G>C, NM_001131019.3:c.580G>A, NM_001131019.2:c.580G>C, NM_001131019.2:c.580G>A, NM_001363846.2:c.580G>C, NM_001363846.2:c.580G>A, NM_001363846.1:c.580G>C, NM_001363846.1:c.580G>A, NP_002046.1:p.Glu194Gln, NP_002046.1:p.Glu194Lys, NP_001229305.1:p.Glu194Gln, NP_001229305.1:p.Glu194Lys, NP_001124491.1:p.Glu194Gln, NP_001124491.1:p.Glu194Lys, NP_001350775.1:p.Glu194Gln, NP_001350775.1:p.Glu194Lys

Select item 145953055010.

rs1459530550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44911438 (GRCh38)
17:42988806 (GRCh37)
Canonical SPDI:: NC_000017.11:44911437:G:A
Gene:: GFAP (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44911438G>A, NC_000017.10:g.42988806G>A, NG_008401.1:g.9109C>T, NM_002055.5:c.925C>T, NM_002055.4:c.925C>T, NM_001242376.3:c.925C>T, NM_001242376.2:c.925C>T, NM_001242376.1:c.925C>T, NM_001131019.3:c.925C>T, NM_001131019.2:c.925C>T, NM_001363846.2:c.925C>T, NM_001363846.1:c.925C>T, NP_002046.1:p.Gln309Ter, NP_001229305.1:p.Gln309Ter, NP_001124491.1:p.Gln309Ter, NP_001350775.1:p.Gln309Ter

Select item 145684457811.

rs1456844578 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:44913326 (GRCh38)
17:42990694 (GRCh37)
Canonical SPDI:: NC_000017.11:44913325:C:G
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44913326C>G, NC_000017.10:g.42990694C>G, NG_008401.1:g.7221G>C, NM_002055.5:c.723G>C, NM_002055.4:c.723G>C, NM_001242376.3:c.723G>C, NM_001242376.2:c.723G>C, NM_001242376.1:c.723G>C, NM_001131019.3:c.723G>C, NM_001131019.2:c.723G>C, NM_001363846.2:c.723G>C, NM_001363846.1:c.723G>C, NP_002046.1:p.Gln241His, NP_001229305.1:p.Gln241His, NP_001124491.1:p.Gln241His, NP_001350775.1:p.Gln241His

Select item 145683775512.

rs1456837755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44914041 (GRCh38)
17:42991409 (GRCh37)
Canonical SPDI:: NC_000017.11:44914040:G:A
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.44914041G>A, NC_000017.10:g.42991409G>A, NG_008401.1:g.6506C>T, NM_002055.5:c.509C>T, NM_002055.4:c.509C>T, NM_001242376.3:c.509C>T, NM_001242376.2:c.509C>T, NM_001242376.1:c.509C>T, NM_001131019.3:c.509C>T, NM_001131019.2:c.509C>T, NM_001363846.2:c.509C>T, NM_001363846.1:c.509C>T, NP_002046.1:p.Ala170Val, NP_001229305.1:p.Ala170Val, NP_001124491.1:p.Ala170Val, NP_001350775.1:p.Ala170Val

Select item 145521135413.

rs1455211354 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44915374 (GRCh38)
17:42992742 (GRCh37)
Canonical SPDI:: NC_000017.11:44915373:G:A
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000102/2 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.00002/5 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44915374G>A, NC_000017.10:g.42992742G>A, NG_008401.1:g.5173C>T, NM_002055.5:c.113C>T, NM_002055.4:c.113C>T, NM_001242376.3:c.113C>T, NM_001242376.2:c.113C>T, NM_001242376.1:c.113C>T, NM_001131019.3:c.113C>T, NM_001131019.2:c.113C>T, NM_001363846.2:c.113C>T, NM_001363846.1:c.113C>T, NP_002046.1:p.Ser38Phe, NP_001229305.1:p.Ser38Phe, NP_001124491.1:p.Ser38Phe, NP_001350775.1:p.Ser38Phe

Select item 145519863714.

rs1455198637 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44915039 (GRCh38)
17:42992407 (GRCh37)
Canonical SPDI:: NC_000017.11:44915038:T:C
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.44915039T>C, NC_000017.10:g.42992407T>C, NG_008401.1:g.5508A>G, NM_002055.5:c.448A>G, NM_002055.4:c.448A>G, NM_001242376.3:c.448A>G, NM_001242376.2:c.448A>G, NM_001242376.1:c.448A>G, NM_001131019.3:c.448A>G, NM_001131019.2:c.448A>G, NM_001363846.2:c.448A>G, NM_001363846.1:c.448A>G, NP_002046.1:p.Thr150Ala, NP_001229305.1:p.Thr150Ala, NP_001124491.1:p.Thr150Ala, NP_001350775.1:p.Thr150Ala

Select item 145246592115.

rs1452465921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:44911757 (GRCh38)
17:42989125 (GRCh37)
Canonical SPDI:: NC_000017.11:44911756:A:C
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44911757A>C, NC_000017.10:g.42989125A>C, NG_008401.1:g.8790T>G, NM_002055.5:c.821T>G, NM_002055.4:c.821T>G, NM_001242376.3:c.821T>G, NM_001242376.2:c.821T>G, NM_001242376.1:c.821T>G, NM_001131019.3:c.821T>G, NM_001131019.2:c.821T>G, NM_001363846.2:c.821T>G, NM_001363846.1:c.821T>G, NP_002046.1:p.Leu274Arg, NP_001229305.1:p.Leu274Arg, NP_001124491.1:p.Leu274Arg, NP_001350775.1:p.Leu274Arg

Select item 144821083916.

rs1448210839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:44910167 (GRCh38)
17:42987535 (GRCh37)
Canonical SPDI:: NC_000017.11:44910166:A:G
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.44910167A>G, NC_000017.10:g.42987535A>G, NG_008401.1:g.10380T>C, NM_001242376.3:c.*302T>C, NM_001242376.2:c.*302T>C, NM_001242376.1:c.*302T>C, NM_001131019.3:c.1265T>C, NM_001131019.2:c.1265T>C, NM_001363846.2:c.1265T>C, NM_001363846.1:c.1265T>C, NP_001124491.1:p.Ile422Thr, NP_001350775.1:p.Ile422Thr

Select item 144665844017.

rs1446658440 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:44910630 (GRCh38)
17:42987998 (GRCh37)
Canonical SPDI:: NC_000017.11:44910629:T:C
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.00001/2 (GnomAD_exomes)
HGVS:: NC_000017.11:g.44910630T>C, NC_000017.10:g.42987998T>C, NG_008401.1:g.9917A>G, NM_002055.5:c.1156A>G, NM_002055.4:c.1156A>G, NM_001242376.3:c.1156A>G, NM_001242376.2:c.1156A>G, NM_001242376.1:c.1156A>G, NM_001131019.3:c.1156A>G, NM_001131019.2:c.1156A>G, NM_001363846.2:c.1156A>G, NM_001363846.1:c.1156A>G, NP_002046.1:p.Asn386Asp, NP_001229305.1:p.Asn386Asp, NP_001124491.1:p.Asn386Asp, NP_001350775.1:p.Asn386Asp

Select item 144247802718.

rs1442478027 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:44911417 (GRCh38)
17:42988785 (GRCh37)
Canonical SPDI:: NC_000017.11:44911416:G:C
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000017.11:g.44911417G>C, NC_000017.10:g.42988785G>C, NG_008401.1:g.9130C>G, NM_002055.5:c.946C>G, NM_002055.4:c.946C>G, NM_001242376.3:c.946C>G, NM_001242376.2:c.946C>G, NM_001242376.1:c.946C>G, NM_001131019.3:c.946C>G, NM_001131019.2:c.946C>G, NM_001363846.2:c.946C>G, NM_001363846.1:c.946C>G, NP_002046.1:p.Arg316Gly, NP_001229305.1:p.Arg316Gly, NP_001124491.1:p.Arg316Gly, NP_001350775.1:p.Arg316Gly

Select item 143666483919.

rs1436664839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:44914028 (GRCh38)
17:42991396 (GRCh37)
Canonical SPDI:: NC_000017.11:44914027:C:T
Gene:: GFAP (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000017.11:g.44914028C>T, NC_000017.10:g.42991396C>T, NG_008401.1:g.6519G>A, NM_002055.5:c.522G>A, NM_002055.4:c.522G>A, NM_001242376.3:c.522G>A, NM_001242376.2:c.522G>A, NM_001242376.1:c.522G>A, NM_001131019.3:c.522G>A, NM_001131019.2:c.522G>A, NM_001363846.2:c.522G>A, NM_001363846.1:c.522G>A

Select item 143552483120.

rs1435524831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:44911408 (GRCh38)
17:42988776 (GRCh37)
Canonical SPDI:: NC_000017.11:44911407:G:A
Gene:: GFAP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.44911408G>A, NC_000017.10:g.42988776G>A, NG_008401.1:g.9139C>T, NM_002055.5:c.955C>T, NM_002055.4:c.955C>T, NM_001242376.3:c.955C>T, NM_001242376.2:c.955C>T, NM_001242376.1:c.955C>T, NM_001131019.3:c.955C>T, NM_001131019.2:c.955C>T, NM_001363846.2:c.955C>T, NM_001363846.1:c.955C>T, NP_002046.1:p.Arg319Trp, NP_001229305.1:p.Arg319Trp, NP_001124491.1:p.Arg319Trp, NP_001350775.1:p.Arg319Trp

dbSNP

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