Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219982748T>C , CM000663.2:g.219982748T>C | GRCh38 |
| NC_000001.10:g.220156090T>C , CM000663.1:g.220156090T>C | GRCh37 |
| NC_000001.9:g.218222713T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004446.3:c.3373+24A>G MANE Select | NP_004437.2:n.3373+24A>G |
| ENST00000366923.8:c.3373+24A>G MANE Select | ENSP00000355890.3:n.3373+24A>G |
| NM_004446.2:c.3373+24A>G | NP_004437.2:n.3373+24A>G |
| ENST00000366923.7:c.3373+24A>G | ENSP00000355890.3:n.3373+24A>G |
| ENST00000485821.1:n.360A>G | |
| XM_017000614.2:c.1795+24A>G | XP_016856103.1:n.1795+24A>G |