Linked Data
ClinVar Variation Id:
1461233
ClinVar RCV Id:
RCV001965753
dbSNP Id:
rs766526922
gnomAD v4:
4-6301653-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301653G>A , CM000666.2:g.6301653G>A | GRCh38 |
| NC_000004.11:g.6303380G>A , CM000666.1:g.6303380G>A | GRCh37 |
| NC_000004.10:g.6354281G>A | NCBI36 |
| NG_011700.1:g.36804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1894G>A | ENSP00000507852.1:p.Val632Met | |
| ENST00000683395.1:c.1835G>A | ||
| ENST00000684087.1:c.1858G>A | ENSP00000506978.1:p.Val620Met | |
| ENST00000506362.2:c.1609G>A | ENSP00000424103.2:p.Val537Met | |
| ENST00000673642.1:c.1517G>A | ENSP00000501242.1:n.1517G>A | |
| ENST00000673991.1:c.1894G>A | ENSP00000501033.1:p.Val632Met | |
| ENST00000226760.5:c.1858G>A MANE Select | ENSP00000226760.1:p.Val620Met | |
| ENST00000503569.5:c.1858G>A | ENSP00000423337.1:p.Val620Met | |
| ENST00000507765.1:n.2043G>A | ||
| NM_001145853.1:c.1858G>A | NP_001139325.1:p.Val620Met | |
| NM_006005.3:c.1858G>A MANE Select | NP_005996.2:p.Val620Met | |
| XM_017008586.1:c.1867G>A | XP_016864075.1:p.Val623Met |