Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133353815C>T , CM000671.2:g.133353815C>T | GRCh38 |
| NC_000009.10:g.135210491C>T | NCBI36 |
| NG_008477.1:g.7692G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371974.8:c.449G>A MANE Select | ENSP00000361042.3:p.Gly150Asp | |
| ENST00000371974.7:c.449G>A | ENSP00000361042.3:p.Gly150Asp | |
| ENST00000437995.1:n.395G>A | ||
| ENST00000495952.5:n.439G>A | ||
| ENST00000615505.4:c.122G>A | ENSP00000482067.1:p.Gly41Asp | |
| NM_001280787.1:c.122G>A | NP_001267716.1:p.Gly41Asp | |
| NM_003172.3:c.449G>A | NP_003163.1:p.Gly150Asp | |
| XM_011518942.1:c.122G>A | XP_011517244.1:p.Gly41Asp | |
| NM_003172.4:c.449G>A MANE Select | NP_003163.1:p.Gly150Asp |