Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23868207G>T , CM000663.2:g.23868207G>T | GRCh38 |
| NC_000001.10:g.24194697G>T , CM000663.1:g.24194697G>T | GRCh37 |
| NC_000001.9:g.24067284G>T | NCBI36 |
| NG_013346.1:g.5163C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000147.5:c.80C>A MANE Select | NP_000138.2:p.Ser27Ter |
| ENST00000374479.4:c.80C>A MANE Select | ENSP00000363603.3:p.Ser27Ter |
| NM_000147.4:c.80C>A | NP_000138.2:p.Ser27Ter |
| NR_174379.1:n.84C>A | |
| NR_174380.1:n.84C>A | |
| NR_174381.1:n.84C>A | |
| NR_174382.1:n.84C>A | |
| ENST00000374479.3:c.80C>A | ENSP00000363603.3:p.Ser27Ter |
| XM_005245821.1:c.-470C>A | XP_005245878.1:n.-470C>A |
| XM_005245821.3:c.-470C>A | XP_005245878.1:n.-470C>A |