Linked Data
ClinVar Variation Id:
161610
ClinVar RCV Id:
RCV000149146
dbSNP Id:
rs193920786
COSMIC:
COSM1179202
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.142784713C>T , CM000665.2:g.142784713C>T | GRCh38 |
| NC_000003.11:g.142503555C>T , CM000665.1:g.142503555C>T | GRCh37 |
| NC_000003.10:g.143986245C>T | NCBI36 |
| NG_030369.1:g.65290C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698238.1:c.1279C>T | ENSP00000513620.1:p.Gln427Ter | |
| ENST00000476941.6:c.970C>T MANE Select | ENSP00000419313.1:p.Gln324Ter | |
| ENST00000273482.10:c.868C>T | ENSP00000273482.6:p.Gln290Ter | |
| ENST00000476941.5:c.970C>T | ENSP00000419313.1:p.Gln324Ter | |
| ENST00000480101.1:n.100C>T | ||
| ENST00000612385.1:c.868C>T | ENSP00000481537.1:p.Gln290Ter | |
| NM_001251845.1:c.970C>T | NP_001238774.1:p.Gln324Ter | |
| NM_003304.4:c.868C>T | NP_003295.1:p.Gln290Ter | |
| XM_005247738.2:c.676C>T | XP_005247795.1:p.Gln226Ter | |
| XM_005247739.1:c.574C>T | XP_005247796.1:p.Gln192Ter | |
| XR_241506.2:n.1498C>T | ||
| XR_924164.1:n.1498C>T | ||
| XR_924165.1:n.1498C>T | ||
| XR_924166.1:n.1498C>T | ||
| XM_005247738.4:c.676C>T | XP_005247795.1:p.Gln226Ter | |
| XM_005247739.2:c.574C>T | XP_005247796.1:p.Gln192Ter | |
| XM_017007121.2:c.787C>T | XP_016862610.1:p.Gln263Ter | |
| XR_001740246.1:n.1629C>T | ||
| XR_241506.4:n.1021C>T | ||
| NM_001251845.2:c.970C>T MANE Select | NP_001238774.1:p.Gln324Ter | |
| NM_003304.5:c.868C>T | NP_003295.1:p.Gln290Ter |