Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.43030369G>A , CM000666.2:g.43030369G>A | GRCh38 |
| NC_000004.11:g.43032386G>A , CM000666.1:g.43032386G>A | GRCh37 |
| NC_000004.10:g.42727143G>A | NCBI36 |
| NG_027718.1:g.142104G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080476.3:c.702G>A MANE Select | NP_001073945.1:p.Gln234= |
| ENST00000399770.3:c.702G>A MANE Select | ENSP00000382670.2:p.Gln234= |
| NM_001080476.2:c.702G>A | NP_001073945.1:p.Gln234= |
| ENST00000399770.2:c.702G>A | ENSP00000382670.2:p.Gln234= |
| XM_011513691.1:c.339G>A | XP_011511993.1:p.Gln113= |