Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47253941G>A , CM000679.2:g.47253941G>A | GRCh38 |
| NC_000017.10:g.45331307G>A , CM000679.1:g.45331307G>A | GRCh37 |
| NC_000017.9:g.42686306G>A | NCBI36 |
| NG_008332.2:g.5100G>A , LRG_481:g.5100G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000212.3:c.79+1G>A MANE Select | NP_000203.2:n.79+1G>A |
| ENST00000559488.7:c.79+1G>A MANE Select | ENSP00000452786.2:n.79+1G>A |
| NM_000212.2:c.79+1G>A , LRG_481t1:c.79+1G>A | NP_000203.2:n.79+1G>A |
| ENST00000559488.5:c.79+1G>A | ENSP00000452786.1:n.79+1G>A |
| ENST00000560629.1:c.44+1G>A | |
| ENST00000571680.1:c.79+1G>A | ENSP00000461626.1:n.79+1G>A |
| ENST00000696963.1:c.79+1G>A | ENSP00000513002.1:n.79+1G>A |