Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68838649C>T , CM000685.2:g.68838649C>T | GRCh38 |
| NC_000023.10:g.68058492C>T , CM000685.1:g.68058492C>T | GRCh37 |
| NC_000023.9:g.67975217C>T | NCBI36 |
| NG_008887.1:g.14653C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004429.5:c.161C>T MANE Select | NP_004420.1:p.Pro54Leu |
| ENST00000204961.5:c.161C>T MANE Select | ENSP00000204961.4:p.Pro54Leu |
| NM_004429.4:c.161C>T | NP_004420.1:p.Pro54Leu |
| ENST00000204961.4:c.161C>T | ENSP00000204961.4:p.Pro54Leu |