Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838649C>A , CM000685.2:g.68838649C>A | GRCh38 |
| NC_000023.10:g.68058492C>A , CM000685.1:g.68058492C>A | GRCh37 |
| NC_000023.9:g.67975217C>A | NCBI36 |
| NG_008887.1:g.14653C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004429.5:c.161C>A MANE Select | NP_004420.1:p.Pro54Gln |
| ENST00000204961.5:c.161C>A MANE Select | ENSP00000204961.4:p.Pro54Gln |
| NM_004429.4:c.161C>A | NP_004420.1:p.Pro54Gln |
| ENST00000204961.4:c.161C>A | ENSP00000204961.4:p.Pro54Gln |