Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420649G>A , CM000669.2:g.94420649G>A | GRCh38 |
| NC_000007.13:g.94049961G>A , CM000669.1:g.94049961G>A | GRCh37 |
| NC_000007.12:g.93887897G>A | NCBI36 |
| NG_007405.1:g.31089G>A , LRG_2:g.31089G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2295+1G>A MANE Select | NP_000080.2:n.2295+1G>A |
| ENST00000297268.11:c.2295+1G>A MANE Select | ENSP00000297268.6:n.2295+1G>A |
| NM_000089.3:c.2295+1G>A , LRG_2t1:c.2295+1G>A | NP_000080.2:n.2295+1G>A |
| ENST00000297268.10:c.2295+1G>A | ENSP00000297268.6:n.2295+1G>A |
| ENST00000461525.5:n.384+1G>A | |
| ENST00000467931.1:n.316G>A | |
| ENST00000473573.5:n.632+1G>A | |
| ENST00000497316.5:n.692+1G>A | |
| ENST00000620463.1:c.2289+1G>A | ENSP00000477719.1:n.2289+1G>A |