Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.12088989A>C , CM000672.2:g.12088989A>C | GRCh38 |
| NC_000010.10:g.12130988A>C , CM000672.1:g.12130988A>C | GRCh37 |
| NC_000010.9:g.12170994A>C | NCBI36 |
| NG_033248.1:g.25073A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263035.9:c.721A>C MANE Select | ENSP00000263035.4:p.Met241Leu | |
| ENST00000263035.8:c.721A>C | ENSP00000263035.4:p.Met241Leu | |
| ENST00000437298.1:c.526A>C | ENSP00000388163.1:p.Met176Leu | |
| ENST00000465617.1:n.299+1260A>C | ||
| NM_018706.6:c.721A>C | NP_061176.3:p.Met241Leu | |
| NM_018706.7:c.721A>C MANE Select | NP_061176.4:p.Met241Leu |