Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75947327G>C , CM000668.2:g.75947327G>C | GRCh38 |
| NC_000006.11:g.76657044G>C , CM000668.1:g.76657044G>C | GRCh37 |
| NC_000006.10:g.76713764G>C | NCBI36 |
| NG_041812.1:g.130352C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.2031C>G MANE Select | ENSP00000358966.3:p.Leu677= | |
| ENST00000369950.7:c.2031C>G | ENSP00000358966.3:p.Leu677= | |
| ENST00000611179.4:c.1797C>G | ENSP00000481913.1:p.Leu599= | |
| NM_001282368.1:c.1797C>G | NP_001269297.1:p.Leu599= | |
| NM_001563.3:c.2031C>G | NP_001554.2:p.Leu677= | |
| NM_001563.4:c.2031C>G MANE Select | NP_001554.2:p.Leu677= | |
| NM_001282368.2:c.1797C>G | NP_001269297.1:p.Leu599= |