Linked Data
ClinVar Variation Id:
353068
ClinVar RCV Id:
RCV000261405
dbSNP Id:
rs77506744
gnomAD v2:
5-178539621-G-A
gnomAD v3:
5-179112620-G-A
gnomAD v4:
5-179112620-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179112620G>A , CM000667.2:g.179112620G>A | GRCh38 |
| NC_000005.9:g.178539621G>A , CM000667.1:g.178539621G>A | GRCh37 |
| NC_000005.8:g.178472227G>A | NCBI36 |
| NG_023212.2:g.237709C>T | |
| NG_023212.3:g.237709C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251582.12:c.*1247C>T MANE Select | ENSP00000251582.7:n.*1247C>T | |
| ENST00000251582.11:c.*1247C>T | ENSP00000251582.7:n.*1247C>T | |
| NM_014244.4:c.*1247C>T | NP_055059.2:n.*1247C>T | |
| NM_014244.5:c.*1247C>T MANE Select | NP_055059.2:n.*1247C>T |