Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665852C= , CM000679.2:g.39665852C= | GRCh38 |
| NC_000017.10:g.37822105C= , CM000679.1:g.37822105C= | GRCh37 |
| NC_000017.9:g.35075631C= | NCBI36 |
| NG_008892.1:g.5507C= , LRG_210:g.5507C= | |
| NG_042278.1:g.2872C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.247C= MANE Select | ENSP00000312624.2:p.Leu83= | |
| ENST00000309889.2:c.247C= | ENSP00000312624.2:p.Leu83= | |
| ENST00000578283.1:c.175C= | ENSP00000462787.1:p.Leu59= | |
| NM_003673.3:c.247C= , LRG_210t1:c.247C= | NP_003664.1:p.Leu83= | |
| NM_003673.4:c.247C= MANE Select | NP_003664.1:p.Leu83= |