Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372314G>A , CM000679.2:g.44372314G>A | GRCh38 |
| NC_000017.10:g.42449682G>A , CM000679.1:g.42449682G>A | GRCh37 |
| NC_000017.9:g.39805208G>A | NCBI36 |
| NG_008331.1:g.22192C>T , LRG_479:g.22192C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*50C>T MANE Select | ENSP00000262407.5:n.*50C>T | |
| ENST00000648408.1:c.2484C>T | ||
| ENST00000262407.5:c.*50C>T | ENSP00000262407.5:n.*50C>T | |
| ENST00000587295.5:c.363C>T | ||
| ENST00000588098.1:c.147C>T | ||
| NM_000419.3:c.*50C>T , LRG_479t1:c.*50C>T | NP_000410.2:n.*50C>T | |
| XM_011524749.1:c.*50C>T | XP_011523051.1:n.*50C>T | |
| XM_011524750.1:c.*50C>T | XP_011523052.1:n.*50C>T | |
| NM_000419.4:c.*50C>T | NP_000410.2:n.*50C>T | |
| NM_000419.5:c.*50C>T MANE Select | NP_000410.2:n.*50C>T |