Linked Data
ClinVar Variation Id:
2417052
ClinVar RCV Id:
RCV003111880
dbSNP Id:
rs1239765370
gnomAD v2:
7-128483464-G-A
gnomAD v3:
7-128843410-G-A
gnomAD v4:
7-128843410-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128843410G>A , CM000669.2:g.128843410G>A | GRCh38 |
| NC_000007.13:g.128483464G>A , CM000669.1:g.128483464G>A | GRCh37 |
| NC_000007.12:g.128270700G>A | NCBI36 |
| NG_011807.1:g.17982G>A , LRG_870:g.17982G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2644G>A MANE Select | ENSP00000327145.8:p.Val882Met | |
| ENST00000325888.12:c.2644G>A | ENSP00000327145.8:p.Val882Met | |
| ENST00000346177.6:c.2644G>A | ENSP00000344002.6:p.Val882Met | |
| NM_001127487.1:c.2644G>A | NP_001120959.1:p.Val882Met | |
| NM_001458.4:c.2644G>A , LRG_870t1:c.2644G>A | NP_001449.3:p.Val882Met | |
| NM_001127487.2:c.2644G>A | NP_001120959.1:p.Val882Met | |
| NM_001458.5:c.2644G>A MANE Select | NP_001449.3:p.Val882Met |