Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.94769026T>G , CM000676.2:g.94769026T>G | GRCh38 |
| NC_000014.8:g.95235363T>G , CM000676.1:g.95235363T>G | GRCh37 |
| NC_000014.7:g.94305116T>G | NCBI36 |
| NG_034111.1:g.6137A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173849.3:c.547A>C MANE Select | NP_776248.1:p.Lys183Gln |
| ENST00000238558.5:c.547A>C MANE Select | ENSP00000238558.3:p.Lys183Gln |
| NM_173849.2:c.547A>C | NP_776248.1:p.Lys183Gln |
| ENST00000238558.4:c.547A>C | ENSP00000238558.3:p.Lys183Gln |