Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43551654C>T , CM000681.2:g.43551654C>T | GRCh38 |
| NC_000019.9:g.44055806C>T , CM000681.1:g.44055806C>T | GRCh37 |
| NC_000019.8:g.48747646C>T | NCBI36 |
| NG_033799.1:g.28925G>A , LRG_784:g.28925G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262887.10:c.1116G>A MANE Select | ENSP00000262887.5:p.Gln372= | |
| ENST00000262887.9:c.1116G>A | ENSP00000262887.4:p.Gln372= | |
| ENST00000543982.5:c.1023G>A | ENSP00000443671.1:p.Gln341= | |
| ENST00000597811.5:c.726G>A | ||
| NM_006297.2:c.1116G>A , LRG_784t1:c.1116G>A | NP_006288.2:p.Gln372= | |
| NM_006297.3:c.1116G>A MANE Select | NP_006288.2:p.Gln372= |