Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410759C>T , CM000677.2:g.48410759C>T | GRCh38 |
| NC_000015.9:g.48702956C>T , CM000677.1:g.48702956C>T | GRCh37 |
| NC_000015.8:g.46490248C>T | NCBI36 |
| NG_008805.2:g.240030G>A , LRG_778:g.240030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1655G>A | ENSP00000453958.2:n.*1655G>A | |
| ENST00000682158.1:n.2228G>A | ||
| ENST00000682170.1:n.3028G>A | ||
| ENST00000682767.1:n.2144G>A | ||
| ENST00000316623.10:c.*231G>A MANE Select | ENSP00000325527.5:n.*231G>A | |
| ENST00000316623.9:c.*231G>A | ENSP00000325527.5:n.*231G>A | |
| ENST00000559133.5:c.4216G>A | ||
| NM_000138.4:c.*231G>A , LRG_778t1:c.*231G>A | NP_000129.3:n.*231G>A | |
| NM_000138.5:c.*231G>A MANE Select | NP_000129.3:n.*231G>A |