Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44389343C>A , CM000679.2:g.44389343C>A | GRCh38 |
| NC_000017.10:g.42466711C>A , CM000679.1:g.42466711C>A | GRCh37 |
| NC_000017.9:g.39822237C>A | NCBI36 |
| NG_008331.1:g.5163G>T , LRG_479:g.5163G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000419.5:c.131G>T MANE Select | NP_000410.2:p.Gly44Val |
| ENST00000262407.6:c.131G>T MANE Select | ENSP00000262407.5:p.Gly44Val |
| NM_000419.3:c.131G>T , LRG_479t1:c.131G>T | NP_000410.2:p.Gly44Val |
| NM_000419.4:c.131G>T | NP_000410.2:p.Gly44Val |
| ENST00000262407.5:c.131G>T | ENSP00000262407.5:p.Gly44Val |
| XM_011524749.1:c.131G>T | XP_011523051.1:p.Gly44Val |
| XM_011524750.1:c.131G>T | XP_011523052.1:p.Gly44Val |