Linked Data
ClinVar Variation Id:
434466
dbSNP Id:
rs868995055
gnomAD v2:
X-76937235-T-A
gnomAD v3:
X-77681743-T-A
gnomAD v4:
X-77681743-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.77681743T>A , CM000685.2:g.77681743T>A | GRCh38 |
| NC_000023.10:g.76937235T>A , CM000685.1:g.76937235T>A | GRCh37 |
| NC_000023.9:g.76823891T>A | NCBI36 |
| NG_008838.2:g.109479A>T | |
| NG_008838.3:g.109527A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373344.11:c.3513A>T MANE Select | ENSP00000362441.4:p.Arg1171Ser | |
| ENST00000373344.9:c.3513A>T | ENSP00000362441.4:p.Arg1171Ser | |
| ENST00000395603.7:c.3399A>T | ENSP00000378967.3:p.Arg1133Ser | |
| ENST00000480283.5:c.*3141A>T | ENSP00000480196.1:n.*3141A>T | |
| ENST00000493470.2:c.399A>T | ENSP00000485408.1:p.Arg133Ser | |
| ENST00000624166.3:c.3309A>T | ENSP00000485103.1:p.Arg1103Ser | |
| NM_000489.4:c.3513A>T | NP_000480.3:p.Arg1171Ser | |
| NM_138270.3:c.3399A>T | NP_612114.2:p.Arg1133Ser | |
| XM_005262153.3:c.3510A>T | XP_005262210.2:p.Arg1170Ser | |
| XM_005262154.3:c.3426A>T | XP_005262211.2:p.Arg1142Ser | |
| XM_005262155.3:c.3396A>T | XP_005262212.2:p.Arg1132Ser | |
| XM_005262156.3:c.3348A>T | XP_005262213.2:p.Arg1116Ser | |
| XM_005262157.3:c.3309A>T | XP_005262214.2:p.Arg1103Ser | |
| XM_006724666.2:c.3396A>T | XP_006724729.1:p.Arg1132Ser | |
| XM_006724667.2:c.3234A>T | XP_006724730.1:p.Arg1078Ser | |
| XM_006724668.2:c.3513A>T | XP_006724731.1:p.Arg1171Ser | |
| XR_938400.1:n.3781A>T | ||
| NM_000489.5:c.3513A>T | NP_000480.3:p.Arg1171Ser | |
| XM_005262153.5:c.3510A>T | XP_005262210.2:p.Arg1170Ser | |
| XM_005262154.5:c.3426A>T | XP_005262211.2:p.Arg1142Ser | |
| XM_005262155.4:c.3396A>T | XP_005262212.2:p.Arg1132Ser | |
| XM_005262156.4:c.3348A>T | XP_005262213.2:p.Arg1116Ser | |
| XM_005262157.5:c.3309A>T | XP_005262214.2:p.Arg1103Ser | |
| XM_006724666.4:c.3396A>T | XP_006724729.1:p.Arg1132Ser | |
| XM_006724667.3:c.3234A>T | XP_006724730.1:p.Arg1078Ser | |
| XM_006724668.3:c.3513A>T | XP_006724731.1:p.Arg1171Ser | |
| XM_017029601.2:c.3423A>T | XP_016885090.1:p.Arg1141Ser | |
| XM_017029602.1:c.3393A>T | XP_016885091.1:p.Arg1131Ser | |
| XM_017029603.1:c.3345A>T | XP_016885092.1:p.Arg1115Ser | |
| XM_017029604.2:c.3312A>T | XP_016885093.1:p.Arg1104Ser | |
| XM_017029605.1:c.3309A>T | XP_016885094.1:p.Arg1103Ser | |
| XM_017029606.2:c.3282A>T | XP_016885095.1:p.Arg1094Ser | |
| XM_017029607.2:c.3279A>T | XP_016885096.1:p.Arg1093Ser | |
| XM_017029608.2:c.3231A>T | XP_016885097.1:p.Arg1077Ser | |
| XM_017029609.1:c.3195A>T | XP_016885098.1:p.Arg1065Ser | |
| XM_017029610.1:c.3192A>T | XP_016885099.1:p.Arg1064Ser | |
| XM_017029611.1:c.3147A>T | XP_016885100.1:p.Arg1049Ser | |
| XR_001755700.2:n.3738A>T | ||
| NM_138270.4:c.3399A>T | NP_612114.2:p.Arg1133Ser | |
| NM_000489.6:c.3513A>T MANE Select | NP_000480.3:p.Arg1171Ser | |
| NM_138270.5:c.3399A>T | NP_612114.2:p.Arg1133Ser |