Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288343A>G , CM000683.2:g.44288343A>G | GRCh38 |
| NC_000021.8:g.45708226A>G , CM000683.1:g.45708226A>G | GRCh37 |
| NC_000021.7:g.44532654A>G | NCBI36 |
| NG_009556.1:g.7464A>G , LRG_18:g.7464A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.539-2A>G MANE Select | NP_000374.1:n.539-2A>G |
| ENST00000291582.6:c.539-2A>G MANE Select | ENSP00000291582.5:n.539-2A>G |
| NM_000383.3:c.539-2A>G | NP_000374.1:n.539-2A>G |
| ENST00000291582.5:c.539-2A>G | ENSP00000291582.5:n.539-2A>G |
| ENST00000527919.5:n.1083-2A>G | |
| ENST00000530812.5:n.1091-2A>G | |
| XM_011529551.1:c.539-2A>G | XP_011527853.1:n.539-2A>G |