Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100539846C>T , CM000663.2:g.100539846C>T | GRCh38 |
| NC_000001.10:g.101005402C>T , CM000663.1:g.101005402C>T | GRCh37 |
| NC_000001.9:g.100777990C>T | NCBI36 |
| NG_053134.1:g.6675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315033.5:c.880C>T MANE Select | ENSP00000314223.4:p.Leu294= | |
| ENST00000315033.4:c.880C>T | ENSP00000314223.4:p.Leu294= | |
| NM_022049.2:c.880C>T | NP_071332.2:p.Leu294= | |
| NM_022049.3:c.880C>T MANE Select | NP_071332.2:p.Leu294= |