Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148991419C>A , CM000667.2:g.148991419C>A | GRCh38 |
| NC_000005.9:g.148370982C>A , CM000667.1:g.148370982C>A | GRCh37 |
| NC_000005.8:g.148351175C>A | NCBI36 |
| NG_007947.2:g.76756G>T , LRG_269:g.76756G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*13292G>T MANE Select | NP_078853.2:n.*13292G>T |
| ENST00000515425.6:c.*13292G>T MANE Select | ENSP00000423660.1:n.*13292G>T |
| NM_024577.3:c.*13292G>T , LRG_269t1:c.*13292G>T | NP_078853.2:n.*13292G>T |
| ENST00000504690.5:c.*12+12307G>T | ENSP00000425627.1:n.*12+12307G>T |
| ENST00000510350.1:n.231+15462G>T |