Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.70302911C>T , CM000668.2:g.70302911C>T | GRCh38 |
| NC_000006.11:g.71012614C>T , CM000668.1:g.71012614C>T | GRCh37 |
| NC_000006.10:g.71069335C>T | NCBI36 |
| NG_011654.1:g.5173G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001851.6:c.14G>A MANE Select | NP_001842.3:p.Trp5Ter |
| ENST00000357250.11:c.14G>A MANE Select | ENSP00000349790.6:p.Trp5Ter |
| NM_001377291.1:c.14G>A | NP_001364220.1:p.Trp5Ter |
| NM_001851.4:c.14G>A | NP_001842.3:p.Trp5Ter |
| NM_001851.5:c.14G>A | NP_001842.3:p.Trp5Ter |
| ENST00000357250.10:c.14G>A | ENSP00000349790.6:p.Trp5Ter |
| ENST00000370496.3:c.14G>A | ENSP00000359527.3:p.Trp5Ter |
| XM_011535429.1:c.14G>A | XP_011533731.1:p.Trp5Ter |
| XM_011535429.3:c.14G>A | XP_011533731.1:p.Trp5Ter |