Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030367C= , CM000666.2:g.43030367C= | GRCh38 |
| NC_000004.11:g.43032384C= , CM000666.1:g.43032384C= | GRCh37 |
| NC_000004.10:g.42727141C= | NCBI36 |
| NG_027718.1:g.142102C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.700C= MANE Select | NP_001073945.1:p.Gln234= |
| ENST00000399770.3:c.700C= MANE Select | ENSP00000382670.2:p.Gln234= |
| NM_001080476.2:c.700C= | NP_001073945.1:p.Gln234= |
| ENST00000399770.2:c.700C= | ENSP00000382670.2:p.Gln234= |
| XM_011513691.1:c.337C= | XP_011511993.1:p.Gln113= |