Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57248650G= , CM000681.2:g.57248650G= | GRCh38 |
| NC_000019.9:g.57760018G= , CM000681.1:g.57760018G= | GRCh37 |
| NC_000019.8:g.62451830G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001023563.4:c.203G= MANE Select | NP_001018857.2:p.Gly68= |
| ENST00000414468.3:c.203G= MANE Select | ENSP00000412999.1:p.Gly68= |
| NM_001023563.3:c.203G= | NP_001018857.2:p.Gly68= |
| NM_001145078.1:c.-197G= | NP_001138550.1:n.-197G= |
| NM_001145078.2:c.-197G= | NP_001138550.1:n.-197G= |
| ENST00000354309.4:c.-197G= | ENSP00000365414.2:n.-197G= |
| ENST00000414468.2:c.203G= | ENSP00000412999.1:p.Gly68= |