Linked Data
ClinVar Variation Id:
431419
dbSNP Id:
rs993687029
gnomAD v2:
21-34953676-G-A
gnomAD v3:
21-33581370-G-A
gnomAD v4:
21-33581370-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33581370G>A , CM000683.2:g.33581370G>A | GRCh38 |
| NC_000021.8:g.34953676G>A , CM000683.1:g.34953676G>A | GRCh37 |
| NC_000021.7:g.33875546G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303071.10:c.1282C>T MANE Select | ENSP00000307143.4:p.Gln428Ter | |
| ENST00000303071.9:c.1282C>T | ENSP00000307143.4:p.Gln428Ter | |
| ENST00000303113.10:c.1240C>T | ENSP00000304716.3:p.Gln414Ter | |
| ENST00000417871.5:c.*571C>T | ENSP00000392014.1:n.*571C>T | |
| ENST00000432378.5:c.1282C>T | ENSP00000398329.1:p.Gln428Ter | |
| ENST00000437395.5:c.1194C>T | ||
| ENST00000440810.1:c.596C>T | ||
| ENST00000442660.5:c.782C>T | ENSP00000408788.1:n.782C>T | |
| ENST00000444517.5:c.465-1808C>T | ENSP00000392405.1:n.465-1808C>T | |
| ENST00000453626.5:c.1282C>T | ENSP00000394276.1:p.Gln428Ter | |
| ENST00000457359.5:c.*470C>T | ENSP00000415191.1:n.*470C>T | |
| ENST00000462566.1:n.235C>T | ||
| NM_017613.3:c.1282C>T | NP_060083.1:p.Gln428Ter | |
| NM_017613.4:c.1282C>T MANE Select | NP_060083.1:p.Gln428Ter |