Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762811C= , CM000672.2:g.94762811C= | GRCh38 |
| NC_000010.10:g.96522568C= , CM000672.1:g.96522568C= | GRCh37 |
| NC_000010.9:g.96512558C= | NCBI36 |
| NG_008384.2:g.5106C= | |
| NG_008384.3:g.5131C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.106C= MANE Select | ENSP00000360372.3:p.Leu36= | |
| ENST00000371321.7:c.106C= | ENSP00000360372.3:p.Leu36= | |
| ENST00000464755.1:c.932-12247C= | ENSP00000483243.1:n.932-12247C= | |
| ENST00000480405.2:c.106C= | ENSP00000483847.1:p.Leu36= | |
| NM_000769.2:c.106C= | NP_000760.1:p.Leu36= | |
| NM_000769.4:c.106C= MANE Select | NP_000760.1:p.Leu36= |