Linked Data
ClinVar Variation Id:
808685
ClinVar RCV Id:
RCV002479177
dbSNP Id:
rs777259835
ExAC:
2:21232404 C / T
gnomAD v2:
2-21232404-C-T
gnomAD v3:
2-21009532-C-T
gnomAD v4:
2-21009532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21009532C>T , CM000664.2:g.21009532C>T | GRCh38 |
| NC_000002.11:g.21232404C>T , CM000664.1:g.21232404C>T | GRCh37 |
| NC_000002.10:g.21085909C>T | NCBI36 |
| NG_011793.1:g.39542G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.7336G>A MANE Select | ENSP00000233242.1:p.Val2446Met | |
| ENST00000616098.4:c.7336G>A | ENSP00000477990.1:p.Val2446Met | |
| NM_000384.2:c.7336G>A | NP_000375.2:p.Val2446Met | |
| XM_011532809.1:c.5869+1201G>A | XP_011531111.1:n.5869+1201G>A | |
| NM_000384.3:c.7336G>A MANE Select | NP_000375.3:p.Val2446Met |