Linked Data
ClinVar Variation Id:
1031876
ClinVar RCV Id:
RCV001333824
dbSNP Id:
rs2077918865
gnomAD v4:
2-96711664-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96711664T>A , CM000664.2:g.96711664T>A | GRCh38 |
| NC_000002.11:g.97377401T>A , CM000664.1:g.97377401T>A | GRCh37 |
| NC_000002.10:g.96741128T>A | NCBI36 |
| NG_046866.1:g.33419A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264963.9:c.776A>T MANE Select | ENSP00000264963.4:p.Asp259Val | |
| ENST00000264963.8:c.776A>T | ENSP00000264963.4:p.Asp259Val | |
| ENST00000377079.8:c.809A>T | ENSP00000366280.4:p.Asp270Val | |
| ENST00000434524.5:c.*533A>T | ENSP00000413533.1:n.*533A>T | |
| ENST00000434865.5:c.*285A>T | ENSP00000387717.1:n.*285A>T | |
| ENST00000440610.5:c.*238A>T | ENSP00000403283.1:n.*238A>T | |
| ENST00000446780.5:c.*216A>T | ENSP00000417037.1:n.*216A>T | |
| ENST00000449221.5:c.*318A>T | ENSP00000390197.1:n.*318A>T | |
| ENST00000474494.1:n.158A>T | ||
| NM_001142292.1:c.809A>T | NP_001135764.1:p.Asp270Val | |
| NM_030805.3:c.776A>T | NP_110432.1:p.Asp259Val | |
| NR_024518.1:n.762A>T | ||
| NR_024519.1:n.726A>T | ||
| NR_024520.1:n.693A>T | ||
| NR_024521.1:n.610A>T | ||
| XM_006712785.2:c.341A>T | XP_006712848.1:p.Asp114Val | |
| XM_011511947.1:c.395A>T | XP_011510249.1:p.Asp132Val | |
| XM_011511948.1:c.341A>T | XP_011510250.1:p.Asp114Val | |
| NM_001322346.1:c.374A>T | NP_001309275.1:p.Asp125Val | |
| NM_001322347.1:c.395A>T | NP_001309276.1:p.Asp132Val | |
| NM_001322350.1:c.362A>T | NP_001309279.1:p.Asp121Val | |
| NM_001322351.1:c.341A>T | NP_001309280.1:p.Asp114Val | |
| NM_001322352.1:c.395A>T | NP_001309281.1:p.Asp132Val | |
| NM_001322354.1:c.374A>T | NP_001309283.1:p.Asp125Val | |
| NM_001322355.1:c.341A>T | NP_001309284.1:p.Asp114Val | |
| NM_001322356.1:c.341A>T | NP_001309285.1:p.Asp114Val | |
| XM_024453167.1:c.362A>T | XP_024308935.1:p.Asp121Val | |
| NM_001142292.2:c.809A>T | NP_001135764.1:p.Asp270Val | |
| NM_001322346.2:c.374A>T | NP_001309275.1:p.Asp125Val | |
| NM_001322347.2:c.395A>T | NP_001309276.1:p.Asp132Val | |
| NM_001322350.2:c.362A>T | NP_001309279.1:p.Asp121Val | |
| NM_001322351.2:c.341A>T | NP_001309280.1:p.Asp114Val | |
| NM_001322352.2:c.395A>T | NP_001309281.1:p.Asp132Val | |
| NM_001322354.2:c.374A>T | NP_001309283.1:p.Asp125Val | |
| NM_001322355.2:c.341A>T | NP_001309284.1:p.Asp114Val | |
| NM_001322356.2:c.341A>T | NP_001309285.1:p.Asp114Val | |
| NM_030805.4:c.776A>T MANE Select | NP_110432.1:p.Asp259Val |