Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42962893A= , CM000666.2:g.42962893A= | GRCh38 |
| NC_000004.11:g.42964910A= , CM000666.1:g.42964910A= | GRCh37 |
| NC_000004.10:g.42659667A= | NCBI36 |
| NG_027718.1:g.74628A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.386A= MANE Select | ENSP00000382670.2:p.Gln129= | |
| ENST00000399770.2:c.386A= | ENSP00000382670.2:p.Gln129= | |
| NM_001080476.2:c.386A= | NP_001073945.1:p.Gln129= | |
| XM_011513691.1:c.23A= | XP_011511993.1:p.Gln8= | |
| NM_001080476.3:c.386A= MANE Select | NP_001073945.1:p.Gln129= |