Linked Data
ClinVar Variation Id:
10791
ClinVar RCV Id:
RCV000011538
dbSNP Id:
rs137853598
ExAC:
X:119760820 G / A
COSMIC:
COSM1114174
PubMed:
PMID:16251947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120626965G>A , CM000685.2:g.120626965G>A | GRCh38 |
| NC_000023.10:g.119760820G>A , CM000685.1:g.119760820G>A | GRCh37 |
| NC_000023.9:g.119644848G>A | NCBI36 |
| NG_016219.1:g.8186C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.202C>T MANE Select | ENSP00000304364.5:p.Arg68Ter | |
| ENST00000304661.5:c.202C>T | ENSP00000304364.5:p.Arg68Ter | |
| ENST00000371313.2:c.202C>T | ENSP00000360363.2:p.Arg68Ter | |
| NM_001011551.2:c.202C>T | NP_001011551.1:p.Arg68Ter | |
| NM_152692.4:c.202C>T | NP_689905.1:p.Arg68Ter | |
| NM_001011551.3:c.202C>T MANE Select | NP_001011551.1:p.Arg68Ter | |
| NM_152692.5:c.202C>T | NP_689905.1:p.Arg68Ter |