Linked Data
ClinVar Variation Id:
39699
ClinVar RCV Id:
RCV000032901
dbSNP Id:
rs397515414
gnomAD v4:
16-71137272-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71137272T>A , CM000678.2:g.71137272T>A | GRCh38 |
| NC_000016.9:g.71171175T>A , CM000678.1:g.71171175T>A | GRCh37 |
| NG_033116.1:g.98451A>T | |
| NG_033116.2:g.98451A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393567.7:c.922A>T MANE Select | ENSP00000377197.2:p.Lys308Ter | |
| ENST00000288168.14:c.973A>T | ENSP00000288168.10:p.Lys325Ter | |
| ENST00000321489.9:c.922A>T | ENSP00000314736.5:p.Lys308Ter | |
| ENST00000393567.6:c.922A>T | ENSP00000377197.2:p.Lys308Ter | |
| ENST00000536785.1:n.314A>T | ||
| ENST00000538248.5:c.1003A>T | ENSP00000444970.1:p.Lys335Ter | |
| ENST00000538382.1:c.438A>T | ||
| ENST00000539447.5:c.625A>T | ||
| ENST00000541601.5:c.973A>T | ENSP00000437341.1:p.Lys325Ter | |
| ENST00000545230.5:c.286A>T | ENSP00000463422.1:p.Lys96Ter | |
| NM_001198542.1:c.1003A>T | NP_001185471.1:p.Lys335Ter | |
| NM_001198543.1:c.973A>T | NP_001185472.1:p.Lys325Ter | |
| NM_001270974.1:c.922A>T | NP_001257903.1:p.Lys308Ter | |
| NM_017558.4:c.922A>T | NP_060028.2:p.Lys308Ter | |
| XM_006721206.2:c.973A>T | XP_006721269.1:p.Lys325Ter | |
| XM_011523146.1:c.1003A>T | XP_011521448.1:p.Lys335Ter | |
| XM_011523147.1:c.973A>T | XP_011521449.1:p.Lys325Ter | |
| XM_011523148.1:c.922A>T | XP_011521450.1:p.Lys308Ter | |
| XM_011523149.1:c.922A>T | XP_011521451.1:p.Lys308Ter | |
| XM_011523150.1:c.922A>T | XP_011521452.1:p.Lys308Ter | |
| XM_011523151.1:c.1003A>T | XP_011521453.1:p.Lys335Ter | |
| NM_001270974.2:c.922A>T MANE Select | NP_001257903.1:p.Lys308Ter | |
| XM_006721206.3:c.973A>T | XP_006721269.1:p.Lys325Ter | |
| XM_011523146.2:c.1003A>T | XP_011521448.1:p.Lys335Ter | |
| XM_011523151.2:c.1003A>T | XP_011521453.1:p.Lys335Ter | |
| XM_017023346.2:c.1042A>T | XP_016878835.1:p.Lys348Ter | |
| NM_017558.5:c.922A>T | NP_060028.2:p.Lys308Ter |