Linked Data
ClinVar Variation Id:
486710
dbSNP Id:
rs369018004
ExAC:
3:10188242 C / G
gnomAD v2:
3-10188242-C-G
gnomAD v4:
3-10146558-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146558C>G , CM000665.2:g.10146558C>G | GRCh38 |
| NC_000003.11:g.10188242C>G , CM000665.1:g.10188242C>G | GRCh37 |
| NC_000003.10:g.10163242C>G | NCBI36 |
| NG_008212.3:g.9924C>G , LRG_322:g.9924C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*62C>G | ENSP00000512434.1:n.*62C>G | |
| ENST00000696143.1:c.600-3229C>G | ENSP00000512435.1:n.600-3229C>G | |
| ENST00000696153.1:c.385C>G | ENSP00000512444.1:p.Leu129Val | |
| ENST00000256474.3:c.385C>G MANE Select | ENSP00000256474.3:p.Leu129Val | |
| ENST00000256474.2:c.385C>G | ENSP00000256474.2:p.Leu129Val | |
| ENST00000345392.2:c.341-3229C>G | ENSP00000344757.2:n.341-3229C>G | |
| ENST00000477538.1:n.521C>G | ||
| NM_000551.3:c.385C>G , LRG_322t1:c.385C>G | NP_000542.1:p.Leu129Val | |
| NM_198156.2:c.341-3229C>G | NP_937799.1:n.341-3229C>G | |
| XM_011534078.1:c.*62C>G | XP_011532380.1:n.*62C>G | |
| NM_001354723.1:c.*18-3229C>G | NP_001341652.1:n.*18-3229C>G | |
| NM_000551.4:c.385C>G MANE Select | NP_000542.1:p.Leu129Val | |
| NM_001354723.2:c.*18-3229C>G | NP_001341652.1:n.*18-3229C>G | |
| NM_198156.3:c.341-3229C>G | NP_937799.1:n.341-3229C>G |