Linked Data
ClinVar Variation Id:
134414
ClinVar RCV Id:
RCV000121089
dbSNP Id:
rs587778361
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241519652G>C , CM000663.2:g.241519652G>C | GRCh38 |
| NC_000001.10:g.241682952G>C , CM000663.1:g.241682952G>C | GRCh37 |
| NC_000001.9:g.239749575G>C | NCBI36 |
| NG_012338.1:g.5103C>G , LRG_504:g.5103C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.43C>G | ||
| ENST00000682162.1:c.71C>G | ENSP00000508203.1:p.Ser24Trp | |
| ENST00000682567.1:n.148C>G | ||
| ENST00000683521.1:c.71C>G | ENSP00000506864.1:p.Ser24Trp | |
| ENST00000684483.1:c.71C>G | ENSP00000507894.1:p.Ser24Trp | |
| ENST00000366560.4:c.71C>G MANE Select | ENSP00000355518.4:p.Ser24Trp | |
| ENST00000366560.3:c.71C>G | ENSP00000355518.3:p.Ser24Trp | |
| NM_000143.3:c.71C>G , LRG_504t1:c.71C>G | NP_000134.2:p.Ser24Trp | |
| XM_011544132.2:c.-689C>G | XP_011542434.1:n.-689C>G | |
| NM_000143.4:c.71C>G MANE Select | NP_000134.2:p.Ser24Trp |