Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934495C>T , CM000679.2:g.4934495C>T | GRCh38 |
| NC_000017.10:g.4837790C>T , CM000679.1:g.4837790C>T | GRCh37 |
| NC_000017.9:g.4778531C>T | NCBI36 |
| NG_008767.2:g.7201C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000173.7:c.1891C>T MANE Select | NP_000164.5:p.Leu631= |
| ENST00000329125.6:c.1891C>T MANE Select | ENSP00000329380.5:p.Leu631= |
| NM_000173.6:c.1891C>T | NP_000164.5:p.Leu631= |
| ENST00000329125.5:c.1891C>T | ENSP00000329380.5:p.Leu631= |
| ENST00000611961.1:c.1813C>T | ENSP00000484439.1:p.Leu605= |