Linked Data
ClinVar Variation Id:
976878
ClinVar RCV Id:
RCV001254374
dbSNP Id:
rs1354203523
gnomAD v2:
9-80919763-G-A
gnomAD v3:
9-78304847-G-A
gnomAD v4:
9-78304847-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304847G>A , CM000671.2:g.78304847G>A | GRCh38 |
| NC_000009.11:g.80919763G>A , CM000671.1:g.80919763G>A | GRCh37 |
| NC_000009.10:g.80109583G>A | NCBI36 |
| NG_012165.1:g.12705G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.304G>A MANE Select | ENSP00000365773.3:p.Val102Met | |
| ENST00000347159.6:c.304G>A | ENSP00000317606.2:p.Val102Met | |
| ENST00000376588.3:c.304G>A | ENSP00000365773.3:p.Val102Met | |
| NM_021154.4:c.304G>A | NP_066977.1:p.Val102Met | |
| NM_058179.3:c.304G>A | NP_478059.1:p.Val102Met | |
| NM_058179.4:c.304G>A MANE Select | NP_478059.1:p.Val102Met | |
| NM_021154.5:c.304G>A | NP_066977.1:p.Val102Met |