Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934497G>C , CM000679.2:g.4934497G>C | GRCh38 |
| NC_000017.10:g.4837792G>C , CM000679.1:g.4837792G>C | GRCh37 |
| NC_000017.9:g.4778533G>C | NCBI36 |
| NG_008767.2:g.7203G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000173.7:c.1893G>C MANE Select | NP_000164.5:p.Leu631= |
| ENST00000329125.6:c.1893G>C MANE Select | ENSP00000329380.5:p.Leu631= |
| NM_000173.6:c.1893G>C | NP_000164.5:p.Leu631= |
| ENST00000329125.5:c.1893G>C | ENSP00000329380.5:p.Leu631= |
| ENST00000611961.1:c.1815G>C | ENSP00000484439.1:p.Leu605= |