Linked Data
ClinVar Variation Id:
353051
ClinVar RCV Id:
RCV000259382
dbSNP Id:
rs147985762
gnomAD v2:
5-178538672-A-T
gnomAD v3:
5-179111671-A-T
gnomAD v4:
5-179111671-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179111671A>T , CM000667.2:g.179111671A>T | GRCh38 |
| NC_000005.9:g.178538672A>T , CM000667.1:g.178538672A>T | GRCh37 |
| NC_000005.8:g.178471278A>T | NCBI36 |
| NG_023212.2:g.238658T>A | |
| NG_023212.3:g.238658T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.*2196T>A MANE Select | ENSP00000251582.7:n.*2196T>A | |
| ENST00000251582.11:c.*2196T>A | ENSP00000251582.7:n.*2196T>A | |
| NM_014244.4:c.*2196T>A | NP_055059.2:n.*2196T>A | |
| NM_014244.5:c.*2196T>A MANE Select | NP_055059.2:n.*2196T>A |