Linked Data
ClinVar Variation Id:
333361
dbSNP Id:
rs140069324
gnomAD v2:
2-20112746-T-A
gnomAD v3:
2-19912985-T-A
gnomAD v4:
2-19912985-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19912985T>A , CM000664.2:g.19912985T>A | GRCh38 |
| NC_000002.11:g.20112746T>A , CM000664.1:g.20112746T>A | GRCh37 |
| NC_000002.10:g.19976227T>A | NCBI36 |
| NG_021212.1:g.82139A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.*573A>T MANE Select | ENSP00000281405.5:n.*573A>T | |
| ENST00000345530.8:c.*573A>T MANE Plus Clinical | ENSP00000314444.5:n.*573A>T | |
| ENST00000281405.8:c.*573A>T | ENSP00000281405.4:n.*573A>T | |
| ENST00000345530.7:c.*573A>T | ENSP00000314444.5:n.*573A>T | |
| NM_001006657.1:c.*573A>T | NP_001006658.1:n.*573A>T | |
| NM_020779.3:c.*573A>T | NP_065830.2:n.*573A>T | |
| XM_011533007.1:c.*573A>T | XP_011531309.1:n.*573A>T | |
| XM_011533007.2:c.*573A>T | XP_011531309.1:n.*573A>T | |
| XR_426989.3:n.4019A>T | ||
| NM_001006657.2:c.*573A>T MANE Plus Clinical | NP_001006658.1:n.*573A>T | |
| NM_020779.4:c.*573A>T MANE Select | NP_065830.2:n.*573A>T |