Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753304G>T , CM000663.2:g.119753304G>T | GRCh38 |
| NC_000001.10:g.120295927G>T , CM000663.1:g.120295927G>T | GRCh37 |
| NC_000001.9:g.120097450G>T | NCBI36 |
| NG_013348.1:g.20629C>A , LRG_447:g.20629C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005518.4:c.1270C>A MANE Select | NP_005509.1:p.Arg424= |
| ENST00000369406.8:c.1270C>A MANE Select | ENSP00000358414.3:p.Arg424= |
| NM_001166107.1:c.1144C>A , LRG_447t2:c.1144C>A | NP_001159579.1:p.Arg382= |
| NM_005518.3:c.1270C>A , LRG_447t1:c.1270C>A | NP_005509.1:p.Arg424= |
| ENST00000369406.7:c.1270C>A | ENSP00000358414.3:p.Arg424= |
| ENST00000544913.2:c.1144C>A | ENSP00000439495.2:p.Arg382= |
| XM_011541313.1:c.1105C>A | XP_011539615.1:p.Arg369= |
| XM_011541313.2:c.1105C>A | XP_011539615.1:p.Arg369= |