Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147190776A>G , CM000669.2:g.147190776A>G | GRCh38 |
| NC_000007.13:g.146887868A>G , CM000669.1:g.146887868A>G | GRCh37 |
| NC_000007.12:g.146518801A>G | NCBI36 |
| NG_007092.2:g.1079416A>G | |
| NG_007092.3:g.1079776A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.1348+58267A>G MANE Select | NP_054860.1:n.1348+58267A>G |
| ENST00000361727.8:c.1348+58267A>G MANE Select | ENSP00000354778.3:n.1348+58267A>G |
| NM_014141.5:c.1348+58267A>G | NP_054860.1:n.1348+58267A>G |
| ENST00000361727.7:c.1348+58267A>G | ENSP00000354778.3:n.1348+58267A>G |
| ENST00000636870.1:n.1210+58267A>G | |
| ENST00000637694.1:n.1251+58267A>G | |
| ENST00000637825.1:n.831+58267A>G | |
| ENST00000638117.1:n.1251+58267A>G | |
| XM_017011950.2:c.1348+58267A>G | XP_016867439.1:n.1348+58267A>G |