Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41178431A>G , CM000684.2:g.41178431A>G | GRCh38 |
| NC_000022.10:g.41574435A>G , CM000684.1:g.41574435A>G | GRCh37 |
| NC_000022.9:g.39904381A>G | NCBI36 |
| NG_009817.1:g.90822A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001429.4:c.6720A>G MANE Select | NP_001420.2:p.Gly2240= |
| ENST00000263253.9:c.6720A>G MANE Select | ENSP00000263253.7:p.Gly2240= |
| NM_001362843.1:c.6642A>G | NP_001349772.1:p.Gly2214= |
| NM_001362843.2:c.6642A>G | NP_001349772.1:p.Gly2214= |
| NM_001429.3:c.6720A>G | NP_001420.2:p.Gly2240= |
| ENST00000263253.8:c.6720A>G | ENSP00000263253.7:p.Gly2240= |
| ENST00000674155.1:c.6642A>G | ENSP00000501078.1:p.Gly2214= |
| XM_006724165.2:c.6642A>G | XP_006724228.1:p.Gly2214= |