ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48427637G>C , CM000677.2:g.48427637G>C | GRCh38 |
| NC_000015.9:g.48719834G>C , CM000677.1:g.48719834G>C | GRCh37 |
| NC_000015.8:g.46507126G>C | NCBI36 |
| NG_008805.2:g.223152C>G , LRG_778:g.223152C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.7196C>G | ENSP00000453958.2:p.Ala2399Gly | |
| ENST00000674301.2:c.*647C>G | ENSP00000501333.2:n.*647C>G | |
| ENST00000682170.1:n.1315C>G | ||
| ENST00000682767.1:n.431C>G | ||
| ENST00000316623.10:c.7134C>G MANE Select | ENSP00000325527.5:p.Cys2378Trp | |
| ENST00000674301.1:c.2300C>G | ENSP00000501333.1:n.2300C>G | |
| ENST00000316623.9:c.7134C>G | ENSP00000325527.5:p.Cys2378Trp | |
| ENST00000559133.5:c.2503C>G | ||
| NM_000138.4:c.7134C>G , LRG_778t1:c.7134C>G | NP_000129.3:p.Cys2378Trp | |
| NM_000138.5:c.7134C>G MANE Select | NP_000129.3:p.Cys2378Trp |