Linked Data
ClinVar Variation Id:
1372937
ClinVar RCV Id:
RCV002254970
dbSNP Id:
rs753996659
ExAC:
1:241665793 C / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241502493C>G , CM000663.2:g.241502493C>G | GRCh38 |
| NC_000001.10:g.241665793C>G , CM000663.1:g.241665793C>G | GRCh37 |
| NC_000001.9:g.239732416C>G | NCBI36 |
| NG_012338.1:g.22262G>C , LRG_504:g.22262G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.1689G>C | ||
| ENST00000682162.1:c.1215G>C | ENSP00000508203.1:n.1215G>C | |
| ENST00000682567.1:n.2734G>C | ||
| ENST00000683521.1:c.1186G>C | ENSP00000506864.1:p.Val396Leu | |
| ENST00000684161.1:n.2401G>C | ||
| ENST00000684483.1:c.*582G>C | ENSP00000507894.1:n.*582G>C | |
| ENST00000366560.4:c.1186G>C MANE Select | ENSP00000355518.4:p.Val396Leu | |
| ENST00000366560.3:c.1186G>C | ENSP00000355518.3:p.Val396Leu | |
| NM_000143.3:c.1186G>C , LRG_504t1:c.1186G>C | NP_000134.2:p.Val396Leu | |
| XM_011544132.1:c.958G>C | XP_011542434.1:p.Val320Leu | |
| XM_011544132.2:c.958G>C | XP_011542434.1:p.Val320Leu | |
| NM_000143.4:c.1186G>C MANE Select | NP_000134.2:p.Val396Leu |