Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030367C>G , CM000666.2:g.43030367C>G | GRCh38 |
| NC_000004.11:g.43032384C>G , CM000666.1:g.43032384C>G | GRCh37 |
| NC_000004.10:g.42727141C>G | NCBI36 |
| NG_027718.1:g.142102C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.700C>G MANE Select | NP_001073945.1:p.Gln234Glu |
| ENST00000399770.3:c.700C>G MANE Select | ENSP00000382670.2:p.Gln234Glu |
| NM_001080476.2:c.700C>G | NP_001073945.1:p.Gln234Glu |
| ENST00000399770.2:c.700C>G | ENSP00000382670.2:p.Gln234Glu |
| XM_011513691.1:c.337C>G | XP_011511993.1:p.Gln113Glu |