Linked Data
ClinVar Variation Id:
480838
ClinVar RCV Id:
RCV000568960
dbSNP Id:
rs797044973
PubMed:
PMID:15761418
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241504246C>G , CM000663.2:g.241504246C>G | GRCh38 |
| NC_000001.10:g.241667546C>G , CM000663.1:g.241667546C>G | GRCh37 |
| NC_000001.9:g.239734169C>G | NCBI36 |
| NG_012338.1:g.20509G>C , LRG_504:g.20509G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1408-1G>C | ||
| ENST00000682162.1:c.934-1G>C | ENSP00000508203.1:n.934-1G>C | |
| ENST00000682567.1:n.982-1G>C | ||
| ENST00000683521.1:c.905-1G>C | ENSP00000506864.1:n.905-1G>C | |
| ENST00000684161.1:n.2120-1G>C | ||
| ENST00000684483.1:c.*301-1G>C | ENSP00000507894.1:n.*301-1G>C | |
| ENST00000366560.4:c.905-1G>C MANE Select | ENSP00000355518.4:n.905-1G>C | |
| ENST00000366560.3:c.905-1G>C | ENSP00000355518.3:n.905-1G>C | |
| NM_000143.3:c.905-1G>C , LRG_504t1:c.905-1G>C | NP_000134.2:n.905-1G>C | |
| XM_011544132.1:c.677-1G>C | XP_011542434.1:n.677-1G>C | |
| XM_011544132.2:c.677-1G>C | XP_011542434.1:n.677-1G>C | |
| NM_000143.4:c.905-1G>C MANE Select | NP_000134.2:n.905-1G>C |