Linked Data
ClinVar Variation Id:
871045
ClinVar RCV Id:
RCV001090797
dbSNP Id:
rs375023875
gnomAD v2:
1-8044980-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7984920G>A , CM000663.2:g.7984920G>A | GRCh38 |
| NC_000001.10:g.8044980G>A , CM000663.1:g.8044980G>A | GRCh37 |
| NC_000001.9:g.7967567G>A | NCBI36 |
| NG_008271.1:g.28267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338639.10:c.436G>A MANE Select | ENSP00000340278.5:p.Val146Met | |
| ENST00000338639.9:c.436G>A | ENSP00000340278.5:p.Val146Met | |
| ENST00000377488.5:c.436G>A | ENSP00000366708.1:p.Val146Met | |
| ENST00000377491.5:c.436G>A | ENSP00000366711.1:p.Val146Met | |
| ENST00000377493.9:c.376G>A | ENSP00000466242.1:p.Val126Met | |
| ENST00000469225.1:c.349G>A | ENSP00000466756.1:p.Val117Met | |
| ENST00000493373.5:c.436G>A | ENSP00000465404.1:p.Val146Met | |
| ENST00000493678.5:c.436G>A | ENSP00000418770.1:p.Val146Met | |
| NM_001123377.1:c.436G>A | NP_001116849.1:p.Val146Met | |
| NM_007262.4:c.436G>A | NP_009193.2:p.Val146Met | |
| XM_005263424.2:c.436G>A | XP_005263481.1:p.Val146Met | |
| XM_005263424.3:c.436G>A | XP_005263481.1:p.Val146Met | |
| NM_007262.5:c.436G>A MANE Select | NP_009193.2:p.Val146Met | |
| NM_001123377.2:c.436G>A | NP_001116849.1:p.Val146Met |