Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110170560C= , CM000675.2:g.110170560C= | GRCh38 |
| NC_000013.10:g.110822907C= , CM000675.1:g.110822907C= | GRCh37 |
| NC_000013.9:g.109620908C= | NCBI36 |
| NG_011544.2:g.141590G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375820.10:c.3729G= MANE Select | ENSP00000364979.4:p.Gln1243= | |
| ENST00000375820.8:c.3729G= | ENSP00000364979.4:p.Gln1243= | |
| NM_001845.5:c.3729G= | NP_001836.3:p.Gln1243= | |
| XM_011521048.1:c.3537G= | XP_011519350.1:p.Gln1179= | |
| XM_011521048.2:c.3537G= | XP_011519350.1:p.Gln1179= | |
| NM_001845.6:c.3729G= MANE Select | NP_001836.3:p.Gln1243= |