Linked Data
ClinVar Variation Id:
161112
ClinVar RCV Id:
RCV000148293
dbSNP Id:
rs606231420
gnomAD v4:
2-203868047-C-A
PubMed:
PMID:25329329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203868047C>A , CM000664.2:g.203868047C>A | GRCh38 |
| NC_000002.11:g.204732770C>A , CM000664.1:g.204732770C>A | GRCh37 |
| NC_000002.10:g.204441015C>A | NCBI36 |
| NG_011502.1:g.5262C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.105C>A | ENSP00000512353.1:p.Cys35Ter | |
| ENST00000696479.1:c.177C>A | ENSP00000512655.1:p.Cys59Ter | |
| ENST00000648405.2:c.105C>A MANE Select | ENSP00000497102.1:p.Cys35Ter | |
| ENST00000295854.10:c.105C>A | ENSP00000295854.6:p.Cys35Ter | |
| ENST00000302823.7:c.105C>A | ENSP00000303939.3:p.Cys35Ter | |
| ENST00000472206.1:c.105C>A | ENSP00000417779.1:p.Cys35Ter | |
| ENST00000487393.1:n.105C>A | ||
| NM_001037631.2:c.105C>A | NP_001032720.1:p.Cys35Ter | |
| NM_005214.4:c.105C>A | NP_005205.2:p.Cys35Ter | |
| XR_241294.1:n.245C>A | ||
| NM_001037631.3:c.105C>A | NP_001032720.1:p.Cys35Ter | |
| NM_005214.5:c.105C>A MANE Select | NP_005205.2:p.Cys35Ter |