Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50915816C>T , CM000685.2:g.50915816C>T | GRCh38 |
| NC_000023.10:g.50658816C>T , CM000685.1:g.50658816C>T | GRCh37 |
| NC_000023.9:g.50675556C>T | NCBI36 |
| NG_012894.1:g.10033C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.388C>T MANE Select | ENSP00000252677.3:p.Leu130= | |
| ENST00000252677.3:c.388C>T | ENSP00000252677.3:p.Leu130= | |
| NM_005448.2:c.388C>T MANE Select | NP_005439.2:p.Leu130= |