Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2277966C>A , CM000678.2:g.2277966C>A | GRCh38 |
| NC_000016.9:g.2327967C>A , CM000678.1:g.2327967C>A | GRCh37 |
| NC_000016.8:g.2267968C>A | NCBI36 |
| NG_011790.1:g.67781G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.4822G>T MANE Select | ENSP00000301732.5:p.Gly1608Cys | |
| ENST00000301732.9:c.4822G>T | ENSP00000301732.5:p.Gly1608Cys | |
| ENST00000382381.7:c.4648G>T | ENSP00000371818.3:p.Gly1550Cys | |
| NM_001089.2:c.4822G>T | NP_001080.2:p.Gly1608Cys | |
| NM_001089.3:c.4822G>T MANE Select | NP_001080.2:p.Gly1608Cys |