Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024175C= , CM000682.2:g.59024175C= | GRCh38 |
| NC_000020.10:g.57599230C= , CM000682.1:g.57599230C= | GRCh37 |
| NC_000020.9:g.57032625C= | NCBI36 |
| NG_023424.2:g.9922C= , LRG_581:g.9922C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.748C= MANE Select | ENSP00000217133.1:p.Leu250= | |
| ENST00000217133.1:c.748C= | ENSP00000217133.1:p.Leu250= | |
| NM_030773.3:c.748C= , LRG_581t1:c.748C= | NP_110400.1:p.Leu250= | |
| XM_017028085.1:c.682C= | XP_016883574.1:p.Leu228= | |
| NM_030773.4:c.748C= MANE Select | NP_110400.1:p.Leu250= |