Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37769267G>A , CM000684.2:g.37769267G>A | GRCh38 |
| NC_000022.10:g.38165274G>A , CM000684.1:g.38165274G>A | GRCh37 |
| NC_000022.9:g.36495220G>A | NCBI36 |
| NG_012857.1:g.77280G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.6741G>A MANE Select | ENSP00000496394.1:p.Leu2247= | |
| ENST00000344404.10:c.*6224G>A | ENSP00000340312.6:n.*6224G>A | |
| ENST00000403663.6:c.1602G>A | ENSP00000386026.2:p.Leu534= | |
| ENST00000406386.7:c.6741G>A | ENSP00000384312.3:p.Leu2247= | |
| NM_001039141.2:c.6741G>A | NP_001034230.1:p.Leu2247= | |
| NM_007032.5:c.1602G>A | NP_008963.3:p.Leu534= | |
| NM_001039141.3:c.6741G>A MANE Select | NP_001034230.1:p.Leu2247= |