Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539935C= , CM000663.2:g.100539935C= | GRCh38 |
| NC_000001.10:g.101005491C= , CM000663.1:g.101005491C= | GRCh37 |
| NC_000001.9:g.100778079C= | NCBI36 |
| NG_053134.1:g.6764C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.969C= MANE Select | ENSP00000314223.4:p.Leu323= | |
| ENST00000315033.4:c.969C= | ENSP00000314223.4:p.Leu323= | |
| NM_022049.2:c.969C= | NP_071332.2:p.Leu323= | |
| NM_022049.3:c.969C= MANE Select | NP_071332.2:p.Leu323= |