Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110169759A= , CM000675.2:g.110169759A= | GRCh38 |
| NC_000013.10:g.110822106A= , CM000675.1:g.110822106A= | GRCh37 |
| NC_000013.9:g.109620107A= | NCBI36 |
| NG_011544.2:g.142391T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3746T= MANE Select | ENSP00000364979.4:p.Leu1249= | |
| ENST00000375820.8:c.3746T= | ENSP00000364979.4:p.Leu1249= | |
| NM_001845.5:c.3746T= | NP_001836.3:p.Leu1249= | |
| XM_011521048.1:c.3554T= | XP_011519350.1:p.Leu1185= | |
| XM_011521048.2:c.3554T= | XP_011519350.1:p.Leu1185= | |
| NM_001845.6:c.3746T= MANE Select | NP_001836.3:p.Leu1249= |