Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218782297A>T , CM000664.2:g.218782297A>T | GRCh38 |
| NC_000002.11:g.219647020A>T , CM000664.1:g.219647020A>T | GRCh37 |
| NC_000002.10:g.219355264A>T | NCBI36 |
| NG_007959.1:g.5549A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000784.4:c.115A>T MANE Select | NP_000775.1:p.Lys39Ter |
| ENST00000258415.9:c.115A>T MANE Select | ENSP00000258415.4:p.Lys39Ter |
| NM_000784.3:c.115A>T | NP_000775.1:p.Lys39Ter |
| ENST00000258415.8:c.115A>T | ENSP00000258415.4:p.Lys39Ter |
| ENST00000445971.1:c.115A>T | ENSP00000404945.1:p.Lys39Ter |
| ENST00000466602.1:n.124A>T | |
| ENST00000494263.5:n.549A>T | |
| XM_017003488.2:c.-115A>T | XP_016858977.1:n.-115A>T |