Linked Data
ClinVar Variation Id:
342318
ClinVar RCV Id:
RCV000289898
dbSNP Id:
rs191621154
gnomAD v2:
3-100945342-T-A
gnomAD v3:
3-101226498-T-A
gnomAD v4:
3-101226498-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101226498T>A , CM000665.2:g.101226498T>A | GRCh38 |
| NC_000003.11:g.100945342T>A , CM000665.1:g.100945342T>A | GRCh37 |
| NC_000003.10:g.102428032T>A | NCBI36 |
| NG_028284.1:g.99078A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.*471A>T MANE Select | ENSP00000193391.6:n.*471A>T | |
| ENST00000193391.7:c.*471A>T | ENSP00000193391.6:n.*471A>T | |
| NM_016247.3:c.*471A>T | NP_057331.2:n.*471A>T | |
| XM_011512871.1:c.*471A>T | XP_011511173.1:n.*471A>T | |
| XM_011512872.1:c.*471A>T | XP_011511174.1:n.*471A>T | |
| NM_016247.4:c.*471A>T MANE Select | NP_057331.2:n.*471A>T |