Linked Data
ClinVar Variation Id:
60666
ClinVar RCV Id:
RCV000054479
dbSNP Id:
rs587777022
PubMed:
PMID:23802536
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3118950C>G , CM000681.2:g.3118950C>G | GRCh38 |
| NC_000019.9:g.3118948C>G , CM000681.1:g.3118948C>G | GRCh37 |
| NC_000019.8:g.3069948C>G | NCBI36 |
| NG_033852.2:g.29541C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000078429.9:c.632C>G MANE Select | ENSP00000078429.3:p.Ser211Trp | |
| ENST00000078429.8:c.632C>G | ENSP00000078429.3:p.Ser211Trp | |
| ENST00000586180.1:n.151C>G | ||
| ENST00000587636.1:c.178C>G | ||
| ENST00000590534.1:n.1801C>G | ||
| ENST00000591301.1:n.138C>G | ||
| NM_002067.4:c.632C>G | NP_002058.2:p.Ser211Trp | |
| NM_002067.5:c.632C>G MANE Select | NP_002058.2:p.Ser211Trp |