Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.231739172G>T , CM000664.2:g.231739172G>T | GRCh38 |
| NC_000002.11:g.232603882G>T , CM000664.1:g.232603882G>T | GRCh37 |
| NC_000002.10:g.232312126G>T | NCBI36 |
| NG_034064.1:g.47156C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002601.4:c.67C>A MANE Select | NP_002592.1:p.Arg23= |
| ENST00000287600.9:c.67C>A MANE Select | ENSP00000287600.4:p.Arg23= |
| NM_001291018.1:c.67C>A | NP_001277947.1:p.Arg23= |
| NM_001291018.2:c.67C>A | NP_001277947.1:p.Arg23= |
| NM_002601.3:c.67C>A | NP_002592.1:p.Arg23= |
| ENST00000287600.8:c.67C>A | ENSP00000287600.4:p.Arg23= |
| ENST00000409772.5:c.67C>A | ENSP00000387108.1:p.Arg23= |
| ENST00000428104.2:c.10C>A | ENSP00000399098.2:p.Arg4= |
| ENST00000486044.1:n.216C>A | |
| XM_011511342.1:c.10C>A | XP_011509644.1:p.Arg4= |