Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110170551C>T , CM000675.2:g.110170551C>T | GRCh38 |
| NC_000013.10:g.110822898C>T , CM000675.1:g.110822898C>T | GRCh37 |
| NC_000013.9:g.109620899C>T | NCBI36 |
| NG_011544.2:g.141599G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3738G>A MANE Select | ENSP00000364979.4:p.Leu1246= | |
| ENST00000375820.8:c.3738G>A | ENSP00000364979.4:p.Leu1246= | |
| NM_001845.5:c.3738G>A | NP_001836.3:p.Leu1246= | |
| XM_011521048.1:c.3546G>A | XP_011519350.1:p.Leu1182= | |
| XM_011521048.2:c.3546G>A | XP_011519350.1:p.Leu1182= | |
| NM_001845.6:c.3738G>A MANE Select | NP_001836.3:p.Leu1246= |