Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73408748G>A , CM000664.2:g.73408748G>A | GRCh38 |
| NC_000002.11:g.73635876G>A , CM000664.1:g.73635876G>A | GRCh37 |
| NC_000002.10:g.73489384G>A | NCBI36 |
| NG_011690.1:g.27994G>A , LRG_741:g.27994G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001378454.1:c.450+1G>A MANE Select | NP_001365383.1:n.450+1G>A |
| ENST00000613296.6:c.450+1G>A MANE Select | ENSP00000482968.1:n.450+1G>A |
| NM_015120.4:c.453+1G>A , LRG_741t1:c.453+1G>A | NP_055935.4:n.453+1G>A |
| ENST00000484298.5:c.325-10375G>A | ENSP00000478155.1:n.325-10375G>A |
| ENST00000613296.4:c.450+1G>A | ENSP00000482968.1:n.450+1G>A |
| ENST00000614410.4:c.450+1G>A | ENSP00000479094.1:n.450+1G>A |
| ENST00000682675.1:n.410+1G>A | |
| ENST00000682889.1:n.415+1G>A | |
| ENST00000684148.1:n.197-10375G>A |