Linked Data
ClinVar Variation Id:
448911
ClinVar RCV Id:
RCV000523149
dbSNP Id:
rs1554974135
PubMed:
PMID:27068007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65547459G>C , CM000673.2:g.65547459G>C | GRCh38 |
| NC_000011.9:g.65314930G>C , CM000673.1:g.65314930G>C | GRCh37 |
| NC_000011.8:g.65071506G>C | NCBI36 |
| NG_016437.1:g.15770C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.*1350C>G | ENSP00000435146.2:n.*1350C>G | |
| ENST00000526927.6:c.1232C>G | ENSP00000431219.2:p.Ser411Cys | |
| ENST00000530866.6:c.1820C>G | ENSP00000435276.2:p.Ser607Cys | |
| ENST00000685178.1:n.1759C>G | ||
| ENST00000688764.1:n.610C>G | ||
| ENST00000689505.1:c.1964C>G | ENSP00000510401.1:p.Ser655Cys | |
| ENST00000301873.11:c.2087C>G MANE Select | ENSP00000301873.5:p.Ser696Cys | |
| ENST00000301873.9:c.2087C>G | ENSP00000301873.5:p.Ser696Cys | |
| ENST00000322147.8:c.2087C>G | ENSP00000326647.4:p.Ser696Cys | |
| ENST00000526927.5:c.1038C>G | ||
| ENST00000527339.1:c.107C>G | ENSP00000432121.1:p.Ser36Cys | |
| ENST00000528516.5:c.*1732C>G | ENSP00000432350.1:n.*1732C>G | |
| ENST00000530866.5:c.1820C>G | ENSP00000435276.1:p.Ser607Cys | |
| ENST00000532932.5:c.377C>G | ENSP00000435530.1:p.Ser126Cys | |
| ENST00000536982.5:c.-905C>G | ENSP00000441912.2:n.-905C>G | |
| NM_001130144.2:c.2087C>G | NP_001123616.1:p.Ser696Cys | |
| NM_001164266.1:c.1736C>G | NP_001157738.1:p.Ser579Cys | |
| NM_021070.4:c.2087C>G | NP_066548.2:p.Ser696Cys | |
| XM_011545032.1:c.2114C>G | XP_011543334.1:p.Ser705Cys | |
| XM_011545033.1:c.2114C>G | XP_011543335.1:p.Ser705Cys | |
| XR_949928.1:n.2514C>G | ||
| XM_011545032.2:c.2114C>G | XP_011543334.1:p.Ser705Cys | |
| XM_011545033.3:c.2114C>G | XP_011543335.1:p.Ser705Cys | |
| XM_017017737.2:c.2114C>G | XP_016873226.1:p.Ser705Cys | |
| XR_001747875.2:n.2537C>G | ||
| XR_949928.3:n.2537C>G | ||
| NM_001130144.3:c.2087C>G MANE Select | NP_001123616.1:p.Ser696Cys |