Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160115874G>A , CM000663.2:g.160115874G>A | GRCh38 |
| NC_000001.10:g.160085664G>A , CM000663.1:g.160085664G>A | GRCh37 |
| NC_000001.9:g.158352288G>A | NCBI36 |
| NG_008014.1:g.5117G>A , LRG_6:g.5117G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.12+1G>A MANE Select | NP_000693.1:n.12+1G>A |
| ENST00000361216.8:c.12+1G>A MANE Select | ENSP00000354490.3:n.12+1G>A |
| NM_000702.3:c.12+1G>A | NP_000693.1:n.12+1G>A |
| ENST00000361216.7:c.12+1G>A | ENSP00000354490.3:n.12+1G>A |
| ENST00000392233.7:c.12+1G>A | ENSP00000376066.3:n.12+1G>A |
| ENST00000472488.5:n.115+1G>A | |
| ENST00000478587.1:n.111+1G>A |