Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44372303G>A , CM000679.2:g.44372303G>A | GRCh38 |
| NC_000017.10:g.42449671G>A , CM000679.1:g.42449671G>A | GRCh37 |
| NC_000017.9:g.39805197G>A | NCBI36 |
| NG_008331.1:g.22203C>T , LRG_479:g.22203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.*61C>T MANE Select | ENSP00000262407.5:n.*61C>T | |
| ENST00000648408.1:c.2495C>T | ||
| ENST00000262407.5:c.*61C>T | ENSP00000262407.5:n.*61C>T | |
| ENST00000587295.5:c.374C>T | ||
| ENST00000588098.1:c.158C>T | ||
| NM_000419.3:c.*61C>T , LRG_479t1:c.*61C>T | NP_000410.2:n.*61C>T | |
| XM_011524749.1:c.*61C>T | XP_011523051.1:n.*61C>T | |
| XM_011524750.1:c.*61C>T | XP_011523052.1:n.*61C>T | |
| NM_000419.4:c.*61C>T | NP_000410.2:n.*61C>T | |
| NM_000419.5:c.*61C>T MANE Select | NP_000410.2:n.*61C>T |