Linked Data
ClinVar Variation Id:
37139
ClinVar RCV Id:
RCV000030770
dbSNP Id:
rs387907293
ExAC:
1:10042376 C / G
gnomAD v2:
1-10042376-C-G
gnomAD v3:
1-9982318-C-G
gnomAD v4:
1-9982318-C-G
PubMed:
PMID:22842231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9982318C>G , CM000663.2:g.9982318C>G | GRCh38 |
| NC_000001.10:g.10042376C>G , CM000663.1:g.10042376C>G | GRCh37 |
| NC_000001.9:g.9964963C>G | NCBI36 |
| NG_032954.1:g.43891C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.457C>G MANE Select | ENSP00000366410.1:p.Leu153Val | |
| ENST00000377205.5:c.457C>G | ENSP00000366410.1:p.Leu153Val | |
| ENST00000462686.1:c.457C>G | ENSP00000435134.1:p.Leu153Val | |
| ENST00000496751.1:c.119+1148C>G | ||
| NM_001297778.1:c.457C>G | NP_001284707.1:p.Leu153Val | |
| NM_022787.3:c.457C>G | NP_073624.2:p.Leu153Val | |
| XM_011541971.1:c.439+1148C>G | XP_011540273.1:n.439+1148C>G | |
| XM_011541971.2:c.439+1148C>G | XP_011540273.1:n.439+1148C>G | |
| XM_017002107.2:c.457C>G | XP_016857596.1:p.Leu153Val | |
| XM_017002108.2:c.439+1148C>G | XP_016857597.1:n.439+1148C>G | |
| NM_022787.4:c.457C>G MANE Select | NP_073624.2:p.Leu153Val |