Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125454069C= , CM000673.2:g.125454069C= | GRCh38 |
| NC_000011.9:g.125323965C= , CM000673.1:g.125323965C= | GRCh37 |
| NC_000011.8:g.124829175C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005103.5:c.1020+61G= MANE Select | NP_005094.1:n.1020+61G= |
| ENST00000278919.8:c.1020+61G= MANE Select | ENSP00000278919.3:n.1020+61G= |
| NM_005103.4:c.1020+61G= | NP_005094.1:n.1020+61G= |
| ENST00000278919.7:c.1020+61G= | ENSP00000278919.3:n.1020+61G= |
| ENST00000524427.5:n.533+61G= | |
| ENST00000527350.5:n.417+61G= | |
| ENST00000528863.5:n.228+61G= | |
| ENST00000648911.1:c.1020+61G= | ENSP00000497070.1:n.1020+61G= |
| XM_005271734.2:c.1020+61G= | XP_005271791.1:n.1020+61G= |
| XM_005271735.2:c.1020+61G= | XP_005271792.1:n.1020+61G= |