Linked Data
ClinVar Variation Id:
370944
ClinVar RCV Id:
RCV000410575
dbSNP Id:
rs1057516886
gnomAD v2:
16-8906884-G-A
gnomAD v3:
16-8813027-G-A
gnomAD v4:
16-8813027-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8813027G>A , CM000678.2:g.8813027G>A | GRCh38 |
| NC_000016.9:g.8906884G>A , CM000678.1:g.8906884G>A | GRCh37 |
| NC_000016.8:g.8814385G>A | NCBI36 |
| NG_009209.1:g.20215G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567697.2:n.3728G>A | ||
| ENST00000682008.1:c.560G>A | ENSP00000507849.1:p.Trp187Ter | |
| ENST00000682393.1:c.*178G>A | ENSP00000506774.1:n.*178G>A | |
| ENST00000683094.1:c.*182G>A | ENSP00000508230.1:n.*182G>A | |
| ENST00000683274.1:c.*100G>A | ENSP00000507262.1:n.*100G>A | |
| ENST00000683435.1:c.*456G>A | ENSP00000508092.1:n.*456G>A | |
| ENST00000268261.9:c.560G>A MANE Select | ENSP00000268261.4:p.Trp187Ter | |
| ENST00000268261.8:c.560G>A | ENSP00000268261.4:p.Trp187Ter | |
| ENST00000562318.5:c.*282G>A | ENSP00000454395.1:n.*282G>A | |
| ENST00000564069.1:c.527G>A | ||
| ENST00000565221.5:c.*178G>A | ENSP00000457932.1:n.*178G>A | |
| ENST00000566540.5:c.*182G>A | ENSP00000454284.1:n.*182G>A | |
| ENST00000566604.5:c.*100G>A | ENSP00000456774.1:n.*100G>A | |
| ENST00000566983.5:c.479G>A | ENSP00000457956.1:p.Trp160Ter | |
| ENST00000567697.1:n.3728G>A | ||
| ENST00000569958.5:c.287G>A | ENSP00000456302.1:p.Trp96Ter | |
| ENST00000570076.5:c.*18G>A | ENSP00000456961.1:n.*18G>A | |
| ENST00000570134.5:c.*182G>A | ENSP00000456275.1:n.*182G>A | |
| NM_000303.2:c.560G>A | NP_000294.1:p.Trp187Ter | |
| XM_005255372.3:c.560G>A | XP_005255429.1:p.Trp187Ter | |
| XM_005255373.3:c.311G>A | XP_005255430.1:p.Trp104Ter | |
| XM_005255374.3:c.311G>A | XP_005255431.1:p.Trp104Ter | |
| XM_011522538.1:c.560G>A | XP_011520840.1:p.Trp187Ter | |
| XM_011522539.1:c.185G>A | XP_011520841.1:p.Trp62Ter | |
| XM_005255374.4:c.311G>A | XP_005255431.1:p.Trp104Ter | |
| NM_000303.3:c.560G>A MANE Select | NP_000294.1:p.Trp187Ter |