Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40768961C>G , CM000679.2:g.40768961C>G | GRCh38 |
| NC_000017.10:g.38925213C>G , CM000679.1:g.38925213C>G | GRCh37 |
| NC_000017.9:g.36178739C>G | NCBI36 |
| NG_012487.1:g.8199G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181539.5:c.1105G>C MANE Select | NP_853517.2:p.Glu369Gln |
| ENST00000335552.5:c.1105G>C MANE Select | ENSP00000334798.4:p.Glu369Gln |
| NM_181539.4:c.1105G>C | NP_853517.2:p.Glu369Gln |
| ENST00000335552.4:c.1105G>C | ENSP00000334798.4:p.Glu369Gln |