Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154044C>G , CM000681.2:g.55154044C>G | GRCh38 |
| NC_000019.9:g.55665412C>G , CM000681.1:g.55665412C>G | GRCh37 |
| NC_000019.8:g.60357224C>G | NCBI36 |
| NG_007866.2:g.8689G>C , LRG_432:g.8689G>C | |
| NG_011829.2:g.195G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.535G>C MANE Select | ENSP00000341838.5:p.Glu179Gln | |
| ENST00000665070.1:c.568G>C | ENSP00000499482.1:p.Glu190Gln | |
| ENST00000344887.9:c.535G>C | ENSP00000341838.5:p.Glu179Gln | |
| ENST00000585806.5:n.534G>C | ||
| ENST00000588882.1:c.460G>C | ENSP00000466729.1:p.Glu154Gln | |
| ENST00000589864.1:n.363G>C | ||
| NM_000363.4:c.535G>C , LRG_432t1:c.535G>C | NP_000354.4:p.Glu179Gln | |
| NM_000363.5:c.535G>C MANE Select | NP_000354.4:p.Glu179Gln |