Linked Data
ClinVar Variation Id:
431849
dbSNP Id:
rs150429680
ExAC:
5:145531558 A / T
gnomAD v2:
5-145531558-A-T
gnomAD v3:
5-146151995-A-T
gnomAD v4:
5-146151995-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146151995A>T , CM000667.2:g.146151995A>T | GRCh38 |
| NC_000005.9:g.145531558A>T , CM000667.1:g.145531558A>T | GRCh37 |
| NC_000005.8:g.145511751A>T | NCBI36 |
| NG_042294.1:g.35737T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.1292T>A MANE Select | ENSP00000377954.2:p.Val431Asp | |
| ENST00000512412.2:n.1469T>A | ||
| ENST00000618084.2:n.1459T>A | ||
| ENST00000674158.1:c.911T>A | ENSP00000501474.1:p.Val304Asp | |
| ENST00000674170.1:c.1292T>A | ENSP00000501381.1:p.Val431Asp | |
| ENST00000674174.1:c.1130T>A | ENSP00000501434.1:p.Val377Asp | |
| ENST00000674191.1:c.836T>A | ENSP00000501478.1:p.Val279Asp | |
| ENST00000674218.1:n.1469T>A | ||
| ENST00000674270.1:c.1154T>A | ENSP00000501365.1:p.Val385Asp | |
| ENST00000674277.1:c.1130T>A | ENSP00000501510.1:p.Val377Asp | |
| ENST00000674290.1:c.1292T>A | ENSP00000501435.1:p.Val431Asp | |
| ENST00000674309.1:c.1292T>A | ENSP00000501400.1:p.Val431Asp | |
| ENST00000674310.1:c.1292T>A | ENSP00000501486.1:p.Val431Asp | |
| ENST00000674383.1:n.1335T>A | ||
| ENST00000674398.1:c.1292T>A | ENSP00000501476.1:p.Val431Asp | |
| ENST00000674412.1:n.1312T>A | ||
| ENST00000674417.1:n.1462T>A | ||
| ENST00000674447.1:c.1211T>A | ENSP00000501376.1:p.Val404Asp | |
| ENST00000674450.1:n.1311T>A | ||
| ENST00000674467.1:c.1292T>A | ENSP00000501351.1:p.Val431Asp | |
| ENST00000674479.1:n.1469T>A | ||
| ENST00000274562.13:c.-102-9005T>A | ENSP00000274562.10:n.-102-9005T>A | |
| ENST00000394434.6:c.1292T>A | ENSP00000377954.2:p.Val431Asp | |
| ENST00000510191.5:c.1130T>A | ENSP00000426005.1:p.Val377Asp | |
| NM_020117.9:c.1292T>A | NP_064502.9:p.Val431Asp | |
| XM_011537655.1:c.1154T>A | XP_011535957.1:p.Val385Asp | |
| XM_011537656.1:c.1130T>A | XP_011535958.1:p.Val377Asp | |
| XM_011537657.1:c.1292T>A | XP_011535959.1:p.Val431Asp | |
| NM_001317964.1:c.1154T>A | NP_001304893.1:p.Val385Asp | |
| NM_001317965.1:c.1130T>A | NP_001304894.1:p.Val377Asp | |
| NM_016460.3:c.1211T>A | NP_057544.2:p.Val404Asp | |
| NM_020117.10:c.1292T>A | NP_064502.9:p.Val431Asp | |
| XM_011537656.3:c.1130T>A | XP_011535958.1:p.Val377Asp | |
| NM_020117.11:c.1292T>A MANE Select | NP_064502.9:p.Val431Asp | |
| NM_001317964.2:c.1154T>A | NP_001304893.1:p.Val385Asp | |
| NM_001317965.2:c.1130T>A | NP_001304894.1:p.Val377Asp | |
| NM_016460.4:c.1211T>A | NP_057544.2:p.Val404Asp |