Linked Data
ClinVar Variation Id:
2970416
ClinVar RCV Id:
RCV003830070
dbSNP Id:
rs368756067
ExAC:
12:4481825 C / T
gnomAD v2:
12-4481825-C-T
gnomAD v3:
12-4372659-C-T
gnomAD v4:
12-4372659-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4372659C>T , CM000674.2:g.4372659C>T | GRCh38 |
| NC_000012.11:g.4481825C>T , CM000674.1:g.4481825C>T | GRCh37 |
| NC_000012.10:g.4352086C>T | NCBI36 |
| NG_007087.1:g.12070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.250G>A MANE Select | ENSP00000237837.1:p.Val84Met | |
| ENST00000648100.1:c.*1967+6377C>T | ENSP00000497536.1:n.*1967+6377C>T | |
| ENST00000648269.1:n.1750G>A | ||
| ENST00000674624.1:c.*1204+6377C>T | ENSP00000501898.1:n.*1204+6377C>T | |
| ENST00000237837.1:c.250G>A | ENSP00000237837.1:p.Val84Met | |
| NM_020638.2:c.250G>A | NP_065689.1:p.Val84Met | |
| NM_020638.3:c.250G>A MANE Select | NP_065689.1:p.Val84Met |