Linked Data
ClinVar Variation Id:
531831
ClinVar RCV Id:
RCV000638366
RCV000765185
RCV001117719
RCV000787890
RCV001117718
RCV003928075
RCV002533215
dbSNP Id:
rs140698625
ExAC:
14:89338776 C / T
gnomAD v2:
14-89338776-C-T
gnomAD v3:
14-88872432-C-T
gnomAD v4:
14-88872432-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88872432C>T , CM000676.2:g.88872432C>T | GRCh38 |
| NC_000014.8:g.89338776C>T , CM000676.1:g.89338776C>T | GRCh37 |
| NC_000014.7:g.88408529C>T | NCBI36 |
| NG_008126.1:g.52799C>T | |
| NG_008126.2:g.53280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1327C>T MANE Select | ENSP00000370031.2:p.Arg443Trp | |
| ENST00000557580.3:c.692C>T | ENSP00000451955.2:n.692C>T | |
| ENST00000338104.10:c.1375C>T | ENSP00000337653.6:p.Arg459Trp | |
| ENST00000345383.9:c.1327C>T | ENSP00000339486.6:p.Arg443Trp | |
| ENST00000346301.8:c.1207C>T | ENSP00000298324.6:p.Arg403Trp | |
| ENST00000354441.10:c.532C>T | ENSP00000346427.6:p.Arg178Trp | |
| ENST00000358622.9:c.733C>T | ENSP00000351439.5:p.Arg245Trp | |
| ENST00000380656.6:c.1327C>T | ENSP00000370031.2:p.Arg443Trp | |
| ENST00000536576.5:c.1207C>T | ENSP00000445067.2:p.Arg403Trp | |
| ENST00000554686.5:c.1176C>T | ||
| ENST00000555057.5:c.*734C>T | ENSP00000450951.1:n.*734C>T | |
| ENST00000557580.2:c.692C>T | ||
| ENST00000614125.4:c.1375C>T | ENSP00000482306.1:p.Arg459Trp | |
| ENST00000622513.4:c.1297C>T | ENSP00000482721.1:p.Arg433Trp | |
| NM_001288781.1:c.1375C>T | NP_001275710.1:p.Arg459Trp | |
| NM_001288782.1:c.733C>T | NP_001275711.1:p.Arg245Trp | |
| NM_001288783.1:c.610C>T | NP_001275712.1:p.Arg204Trp | |
| NM_144596.3:c.1327C>T | NP_653197.2:p.Arg443Trp | |
| NM_198309.3:c.1297C>T | NP_938051.1:p.Arg433Trp | |
| NM_198310.3:c.1207C>T | NP_938052.1:p.Arg403Trp | |
| XM_006720035.1:c.1297C>T | XP_006720098.1:p.Arg433Trp | |
| XM_006720037.2:c.1207C>T | XP_006720100.1:p.Arg403Trp | |
| XM_011536432.1:c.1375C>T | XP_011534734.1:p.Arg459Trp | |
| XM_011536433.1:c.1375C>T | XP_011534735.1:p.Arg459Trp | |
| XM_011536434.1:c.1285C>T | XP_011534736.1:p.Arg429Trp | |
| XM_011536435.1:c.610C>T | XP_011534737.1:p.Arg204Trp | |
| NM_001366535.1:c.1297C>T | NP_001353464.1:p.Arg433Trp | |
| NM_001366536.1:c.1207C>T | NP_001353465.1:p.Arg403Trp | |
| NR_159362.1:n.1414C>T | ||
| XM_011536433.2:c.1375C>T | XP_011534735.1:p.Arg459Trp | |
| XM_011536434.2:c.1285C>T | XP_011534736.1:p.Arg429Trp | |
| XM_024449477.1:c.610C>T | XP_024305245.1:p.Arg204Trp | |
| NM_001366535.2:c.1297C>T | NP_001353464.1:p.Arg433Trp | |
| NM_001366536.2:c.1207C>T | NP_001353465.1:p.Arg403Trp | |
| NR_159362.2:n.1414C>T | ||
| NM_144596.4:c.1327C>T MANE Select | NP_653197.2:p.Arg443Trp |