Linked Data
ClinVar Variation Id:
376029
ClinVar RCV Id:
RCV000418644
dbSNP Id:
rs1057519752
COSMIC:
COSM86963
PubMed:
PMID:21228032
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43349307A>T , CM000663.2:g.43349307A>T | GRCh38 |
| NC_000001.10:g.43814978A>T , CM000663.1:g.43814978A>T | GRCh37 |
| NC_000001.9:g.43587565A>T | NCBI36 |
| NG_007525.1:g.16504A>T , LRG_510:g.16504A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.1513A>T MANE Select | ENSP00000361548.3:p.Ser505Cys | |
| ENST00000413998.7:c.1492A>T | ENSP00000414004.3:p.Ser498Cys | |
| ENST00000638732.1:n.1513A>T | ||
| ENST00000643351.1:c.45A>T | ||
| ENST00000372470.7:c.1513A>T | ENSP00000361548.3:p.Ser505Cys | |
| ENST00000413998.6:c.1513A>T | ENSP00000414004.2:p.Ser505Cys | |
| ENST00000612993.1:c.1513A>T | ENSP00000480273.1:p.Ser505Cys | |
| NM_005373.2:c.1513A>T , LRG_510t1:c.1513A>T | NP_005364.1:p.Ser505Cys | |
| XM_011541478.1:c.1492A>T | XP_011539780.1:p.Ser498Cys | |
| XM_017001320.1:c.1684A>T | XP_016856809.1:p.Ser562Cys | |
| NM_005373.3:c.1513A>T MANE Select | NP_005364.1:p.Ser505Cys |