Linked Data
ClinVar Variation Id:
515046
ClinVar RCV Id:
RCV000867595
dbSNP Id:
rs370499146
ExAC:
5:172659578 G / A
gnomAD v2:
5-172659578-G-A
gnomAD v3:
5-173232575-G-A
gnomAD v4:
5-173232575-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232575G>A , CM000667.2:g.173232575G>A | GRCh38 |
| NC_000005.9:g.172659578G>A , CM000667.1:g.172659578G>A | GRCh37 |
| NC_000005.8:g.172592184G>A | NCBI36 |
| NG_013340.1:g.7738C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329198.5:c.969C>T MANE Select | ENSP00000327758.4:p.Ala323= | |
| ENST00000329198.4:c.969C>T | ENSP00000327758.4:p.Ala323= | |
| NM_001166175.1:c.*922C>T | NP_001159647.1:n.*922C>T | |
| NM_001166176.1:c.*768C>T | NP_001159648.1:n.*768C>T | |
| NM_004387.3:c.969C>T | NP_004378.1:p.Ala323= | |
| NM_004387.4:c.969C>T MANE Select | NP_004378.1:p.Ala323= | |
| NM_001166175.2:c.*922C>T | NP_001159647.1:n.*922C>T | |
| NM_001166176.2:c.*768C>T | NP_001159648.1:n.*768C>T |