Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.146640033C>T , CM000666.2:g.146640033C>T | GRCh38 |
| NC_000004.11:g.147561185C>T , CM000666.1:g.147561185C>T | GRCh37 |
| NC_000004.10:g.147780635C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004575.3:c.455C>T MANE Select | NP_004566.2:p.Ser152Leu |
| ENST00000281321.3:c.455C>T MANE Select | ENSP00000281321.3:p.Ser152Leu |
| NM_004575.2:c.455C>T | NP_004566.2:p.Ser152Leu |