Linked Data
ClinVar Variation Id:
445775
dbSNP Id:
rs79607350
ExAC:
16:70843712 G / A
gnomAD v2:
16-70843712-G-A
gnomAD v3:
16-70809809-G-A
gnomAD v4:
16-70809809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70809809G>A , CM000678.2:g.70809809G>A | GRCh38 |
| NC_000016.9:g.70843712G>A , CM000678.1:g.70843712G>A | GRCh37 |
| NC_000016.8:g.69401213G>A | NCBI36 |
| NG_033116.1:g.425914C>T | |
| NG_033116.2:g.425914C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393567.7:c.14857C>T MANE Select | ENSP00000377197.2:p.Arg4953Trp | |
| ENST00000378856.8:c.3885C>T | ||
| ENST00000393567.6:c.14857C>T | ENSP00000377197.2:p.Arg4953Trp | |
| NM_001270974.1:c.14857C>T | NP_001257903.1:p.Arg4953Trp | |
| XM_006721206.2:c.14908C>T | XP_006721269.1:p.Arg4970Trp | |
| XM_011523146.1:c.15040C>T | XP_011521448.1:p.Arg5014Trp | |
| XM_011523147.1:c.15010C>T | XP_011521449.1:p.Arg5004Trp | |
| XM_011523148.1:c.14959C>T | XP_011521450.1:p.Arg4987Trp | |
| XM_011523149.1:c.14959C>T | XP_011521451.1:p.Arg4987Trp | |
| XM_011523150.1:c.14959C>T | XP_011521452.1:p.Arg4987Trp | |
| XM_011523151.1:c.14938C>T | XP_011521453.1:p.Arg4980Trp | |
| XM_011523152.1:c.8719C>T | XP_011521454.1:p.Arg2907Trp | |
| XM_011523153.1:c.8245C>T | XP_011521455.1:p.Arg2749Trp | |
| XM_011523154.1:c.7837C>T | XP_011521456.1:p.Arg2613Trp | |
| XM_011523155.1:c.7747C>T | XP_011521457.1:p.Arg2583Trp | |
| NM_001270974.2:c.14857C>T MANE Select | NP_001257903.1:p.Arg4953Trp | |
| XM_006721206.3:c.14908C>T | XP_006721269.1:p.Arg4970Trp | |
| XM_011523146.2:c.15040C>T | XP_011521448.1:p.Arg5014Trp | |
| XM_011523151.2:c.14938C>T | XP_011521453.1:p.Arg4980Trp | |
| XM_011523155.2:c.7747C>T | XP_011521457.1:p.Arg2583Trp | |
| XM_017023346.2:c.14977C>T | XP_016878835.1:p.Arg4993Trp | |
| XM_017023347.1:c.13069C>T | XP_016878836.1:p.Arg4357Trp | |
| XM_017023348.1:c.13069C>T | XP_016878837.1:p.Arg4357Trp |