Linked Data
ClinVar Variation Id:
30551
ClinVar RCV Id:
RCV000023508
dbSNP Id:
rs387906929
PubMed:
PMID:20566710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59030427T>C , CM000682.2:g.59030427T>C | GRCh38 |
| NC_000020.10:g.57605482T>C , CM000682.1:g.57605482T>C | GRCh37 |
| NC_000020.9:g.57038877T>C | NCBI36 |
| NG_031871.1:g.6941A>G | |
| NG_031871.2:g.6941A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243997.8:c.35A>G MANE Select | ENSP00000243997.3:p.Tyr12Cys | |
| ENST00000243997.7:c.35A>G | ENSP00000243997.3:p.Tyr12Cys | |
| ENST00000395659.1:c.35A>G | ENSP00000379019.1:p.Tyr12Cys | |
| ENST00000395663.1:c.35A>G | ENSP00000379023.1:p.Tyr12Cys | |
| NM_006886.3:c.35A>G | NP_008817.1:p.Tyr12Cys | |
| NR_037929.1:n.739A>G | ||
| NR_037930.1:n.480A>G | ||
| NM_006886.4:c.35A>G MANE Select | NP_008817.1:p.Tyr12Cys |