Linked Data
ClinVar Variation Id:
2768938
ClinVar RCV Id:
RCV003583982
dbSNP Id:
rs1345782620
gnomAD v2:
1-154544179-G-A
gnomAD v4:
1-154571703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571703G>A , CM000663.2:g.154571703G>A | GRCh38 |
| NC_000001.10:g.154544179G>A , CM000663.1:g.154544179G>A | GRCh37 |
| NC_000001.9:g.152810803G>A | NCBI36 |
| NG_008027.1:g.8923G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.880G>A MANE Select | ENSP00000357461.3:p.Val294Met | |
| ENST00000636034.1:c.880G>A | ENSP00000489703.1:p.Val294Met | |
| ENST00000637900.1:c.886G>A | ENSP00000490474.1:p.Val296Met | |
| ENST00000368476.3:c.880G>A | ENSP00000357461.3:p.Val294Met | |
| NM_000748.2:c.880G>A | NP_000739.1:p.Val294Met | |
| XM_017000180.2:c.370G>A | XP_016855669.1:p.Val124Met | |
| XR_001736952.2:n.1132G>A | ||
| NM_000748.3:c.880G>A MANE Select | NP_000739.1:p.Val294Met |