Linked Data
ClinVar Variation Id:
195804
ClinVar RCV Id:
RCV000176463
dbSNP Id:
rs113046428
gnomAD v2:
19-36592135-G-A
gnomAD v3:
19-36101233-G-A
gnomAD v4:
19-36101233-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36101233G>A , CM000681.2:g.36101233G>A | GRCh38 |
| NC_000019.9:g.36592135G>A , CM000681.1:g.36592135G>A | GRCh37 |
| NC_000019.8:g.41283975G>A | NCBI36 |
| NG_028101.1:g.51353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270301.12:c.2887G>A | ENSP00000270301.6:p.Val963Met | |
| ENST00000401500.7:c.2887G>A MANE Select | ENSP00000384792.1:p.Val963Met | |
| ENST00000587391.6:c.*1577G>A | ENSP00000465525.1:n.*1577G>A | |
| ENST00000679357.1:c.677G>A | ||
| ENST00000679422.1:c.677G>A | ||
| ENST00000679682.1:c.2872G>A | ENSP00000506226.1:p.Val958Met | |
| ENST00000679714.1:c.2881G>A | ENSP00000506627.1:p.Val961Met | |
| ENST00000679757.1:c.2536G>A | ENSP00000505158.1:p.Val846Met | |
| ENST00000679858.1:c.*1684G>A | ENSP00000505655.1:n.*1684G>A | |
| ENST00000680211.1:c.-513G>A | ENSP00000506102.1:n.-513G>A | |
| ENST00000680349.1:n.870G>A | ||
| ENST00000680403.1:c.2887G>A | ENSP00000505677.1:p.Val963Met | |
| ENST00000680564.1:c.2887G>A | ENSP00000505582.1:p.Val963Met | |
| ENST00000680590.1:c.*1282G>A | ENSP00000505350.1:n.*1282G>A | |
| ENST00000680773.1:n.564G>A | ||
| ENST00000680806.1:c.*1716G>A | ENSP00000506418.1:n.*1716G>A | |
| ENST00000681088.1:c.549G>A | ||
| ENST00000681625.1:c.*219G>A | ENSP00000505555.1:n.*219G>A | |
| ENST00000270301.11:c.2887G>A | ENSP00000270301.6:p.Val963Met | |
| ENST00000401500.6:c.2887G>A | ENSP00000384792.1:p.Val963Met | |
| ENST00000587391.5:c.*1577G>A | ENSP00000465525.1:n.*1577G>A | |
| NM_001083961.1:c.2887G>A | NP_001077430.1:p.Val963Met | |
| NM_173636.4:c.2887G>A | NP_775907.4:p.Val963Met | |
| XM_005258809.2:c.2887G>A | XP_005258866.1:p.Val963Met | |
| XM_011526837.1:c.2872G>A | XP_011525139.1:p.Val958Met | |
| XM_011526838.1:c.2887G>A | XP_011525140.1:p.Val963Met | |
| XM_011526839.1:c.2536G>A | XP_011525141.1:p.Val846Met | |
| XM_011526840.1:c.1879G>A | XP_011525142.1:p.Val627Met | |
| XM_011526841.1:c.1465G>A | XP_011525143.1:p.Val489Met | |
| XM_011526842.1:c.1318G>A | XP_011525144.1:p.Val440Met | |
| XM_011526843.1:c.634G>A | XP_011525145.1:p.Val212Met | |
| XM_011526844.1:c.634G>A | XP_011525146.1:p.Val212Met | |
| XM_011526840.2:c.1879G>A | XP_011525142.1:p.Val627Met | |
| XM_011526841.2:c.1465G>A | XP_011525143.1:p.Val489Met | |
| XM_011526844.2:c.634G>A | XP_011525146.1:p.Val212Met | |
| XM_017026665.1:c.2887G>A | XP_016882154.1:p.Val963Met | |
| NM_001083961.2:c.2887G>A MANE Select | NP_001077430.1:p.Val963Met | |
| NM_173636.5:c.2887G>A | NP_775907.4:p.Val963Met |