Linked Data
ClinVar Variation Id:
94083
ClinVar RCV Id:
RCV000080032
RCV000204144
RCV000308646
RCV000402522
RCV000362584
RCV002498407
RCV001789127
RCV001664331
dbSNP Id:
rs61752962
ExAC:
X:106885667 C / T
gnomAD v2:
X-106885667-C-T
gnomAD v3:
X-107642437-C-T
gnomAD v4:
X-107642437-C-T
COSMIC:
COSM6027874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107642437C>T , CM000685.2:g.107642437C>T | GRCh38 |
| NC_000023.10:g.106885667C>T , CM000685.1:g.106885667C>T | GRCh37 |
| NC_000023.9:g.106772323C>T | NCBI36 |
| NG_008407.1:g.19014C>T , LRG_264:g.19014C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372418.4:c.378C>T | ENSP00000361495.2:p.Ile126= | |
| ENST00000372435.10:c.477C>T MANE Select | ENSP00000361512.4:p.Ile159= | |
| ENST00000643795.2:c.477C>T | ENSP00000496286.1:p.Ile159= | |
| ENST00000644642.1:c.123-2740C>T | ENSP00000495493.1:n.123-2740C>T | |
| ENST00000645903.1:n.571C>T | ||
| ENST00000674525.1:n.490+1437C>T | ||
| ENST00000674826.1:c.*170C>T | ENSP00000502278.1:n.*170C>T | |
| ENST00000675046.1:c.185-2740C>T | ||
| ENST00000675082.1:c.72C>T | ENSP00000502347.1:p.Ile24= | |
| ENST00000675124.1:c.72C>T | ENSP00000502439.1:p.Ile24= | |
| ENST00000675630.1:c.72C>T | ENSP00000502050.1:p.Ile24= | |
| ENST00000675720.1:c.353C>T | ||
| ENST00000675921.1:c.72C>T | ENSP00000502707.1:p.Ile24= | |
| ENST00000676092.1:c.358+1484C>T | ENSP00000502780.1:n.358+1484C>T | |
| ENST00000372418.2:c.177C>T | ENSP00000361495.1:p.Ile59= | |
| ENST00000372428.8:c.-82-2740C>T | ENSP00000361505.5:n.-82-2740C>T | |
| ENST00000372435.8:c.477C>T | ENSP00000361512.4:p.Ile159= | |
| NM_001204402.1:c.-82-2740C>T | NP_001191331.1:n.-82-2740C>T | |
| NM_002764.3:c.477C>T , LRG_264t1:c.477C>T | NP_002755.1:p.Ile159= | |
| NM_002764.4:c.477C>T MANE Select | NP_002755.1:p.Ile159= | |
| NM_001204402.2:c.-82-2740C>T | NP_001191331.1:n.-82-2740C>T |