Linked Data
ClinVar Variation Id:
421936
ClinVar RCV Id:
RCV000481064
dbSNP Id:
rs1064795456
gnomAD v4:
X-7325371-C-T
COSMIC:
COSM5711750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.7325371C>T , CM000685.2:g.7325371C>T | GRCh38 |
| NC_000023.10:g.7243412C>T , CM000685.1:g.7243412C>T | GRCh37 |
| NC_000023.9:g.7253412C>T | NCBI36 |
| NG_021472.1:g.110941C>T | |
| NG_021472.2:g.183120C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217961.5:c.1114C>T | ENSP00000217961.5:p.Arg372Trp | |
| ENST00000658154.1:n.1354C>T | ||
| ENST00000660000.2:c.976C>T | ENSP00000499642.2:p.Arg326Trp | |
| ENST00000664306.2:c.1114C>T | ENSP00000499549.2:p.Arg372Trp | |
| ENST00000666110.2:c.1114C>T | ENSP00000499472.2:p.Arg372Trp | |
| ENST00000674429.1:c.1114C>T MANE Select | ENSP00000501534.1:p.Arg372Trp | |
| ENST00000674499.1:c.1129C>T | ENSP00000501360.1:p.Arg377Trp | |
| ENST00000217961.4:c.1129C>T | ENSP00000217961.4:p.Arg377Trp | |
| NM_000351.4:c.1129C>T | NP_000342.2:p.Arg377Trp | |
| XM_005274511.1:c.1150C>T | XP_005274568.1:p.Arg384Trp | |
| XM_011545515.1:c.1150C>T | XP_011543817.1:p.Arg384Trp | |
| XM_011545516.1:c.1150C>T | XP_011543818.1:p.Arg384Trp | |
| XM_011545517.1:c.1114C>T | XP_011543819.1:p.Arg372Trp | |
| XM_011545518.1:c.1114C>T | XP_011543820.1:p.Arg372Trp | |
| NM_000351.5:c.1129C>T | NP_000342.2:p.Arg377Trp | |
| NM_001320750.1:c.1150C>T | NP_001307679.1:p.Arg384Trp | |
| NM_001320751.1:c.1150C>T | NP_001307680.1:p.Arg384Trp | |
| NM_001320752.1:c.1150C>T | NP_001307681.1:p.Arg384Trp | |
| NM_001320753.1:c.1114C>T | NP_001307682.1:p.Arg372Trp | |
| NM_001320754.1:c.1114C>T | NP_001307683.1:p.Arg372Trp | |
| NM_000351.7:c.1114C>T | NP_000342.3:p.Arg372Trp | |
| NM_001320750.3:c.1150C>T | NP_001307679.1:p.Arg384Trp | |
| NM_001320751.2:c.1150C>T | NP_001307680.1:p.Arg384Trp | |
| NM_001320752.2:c.1114C>T MANE Select | NP_001307681.2:p.Arg372Trp | |
| NM_001320753.2:c.1114C>T | NP_001307682.1:p.Arg372Trp | |
| NM_001320754.2:c.1114C>T | NP_001307683.1:p.Arg372Trp |