Linked Data
ClinVar Variation Id:
1368302
ClinVar RCV Id:
RCV001874374
dbSNP Id:
rs751725130
ExAC:
6:132211614 T / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890474T>G , CM000668.2:g.131890474T>G | GRCh38 |
| NC_000006.11:g.132211614T>G , CM000668.1:g.132211614T>G | GRCh37 |
| NC_000006.10:g.132253307T>G | NCBI36 |
| NG_008206.1:g.87459T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684674.1:n.1172T>G | ||
| ENST00000647893.1:c.2741T>G MANE Select | ENSP00000498074.1:p.Leu914Trp | |
| ENST00000360971.6:c.2741T>G | ENSP00000354238.2:p.Leu914Trp | |
| ENST00000513998.5:c.*1578T>G | ENSP00000422424.1:n.*1578T>G | |
| NM_006208.2:c.2741T>G | NP_006199.2:p.Leu914Trp | |
| XM_011535896.1:c.1631T>G | XP_011534198.1:p.Leu544Trp | |
| NM_006208.3:c.2741T>G MANE Select | NP_006199.2:p.Leu914Trp |