Linked Data
ClinVar Variation Id:
30758
ClinVar RCV Id:
RCV000023737
dbSNP Id:
rs387907002
PubMed:
PMID:21660509
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3586967C>T , CM000681.2:g.3586967C>T | GRCh38 |
| NC_000019.9:g.3586965C>T , CM000681.1:g.3586965C>T | GRCh37 |
| NC_000019.8:g.3537965C>T | NCBI36 |
| NG_031943.1:g.6397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644452.3:c.565C>T MANE Select | ENSP00000493901.2:p.Arg189Cys | |
| ENST00000644946.1:c.565C>T | ENSP00000495068.1:p.Arg189Cys | |
| ENST00000322315.5:c.565C>T | ENSP00000319254.5:p.Arg189Cys | |
| NM_133261.2:c.565C>T | NP_573568.1:p.Arg189Cys | |
| XM_005259492.2:c.565C>T | XP_005259549.1:p.Arg189Cys | |
| XM_005259492.3:c.565C>T | XP_005259549.1:p.Arg189Cys | |
| NM_133261.3:c.565C>T MANE Select | NP_573568.1:p.Arg189Cys |