Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293065A>G , CM000683.2:g.44293065A>G | GRCh38 |
| NC_000021.8:g.45712948A>G , CM000683.1:g.45712948A>G | GRCh37 |
| NC_000021.7:g.44537376A>G | NCBI36 |
| NG_009556.1:g.12186A>G , LRG_18:g.12186A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000383.4:c.1168A>G MANE Select | NP_000374.1:p.Thr390Ala |
| ENST00000291582.6:c.1168A>G MANE Select | ENSP00000291582.5:p.Thr390Ala |
| NM_000383.3:c.1168A>G | NP_000374.1:p.Thr390Ala |
| ENST00000291582.5:c.1168A>G | ENSP00000291582.5:p.Thr390Ala |
| ENST00000337909.5:n.629A>G | |
| ENST00000397994.8:n.589+40A>G | |
| ENST00000527919.5:n.1898A>G | |
| ENST00000530812.5:n.2915A>G | |
| XM_011529551.1:c.1165A>G | XP_011527853.1:p.Thr389Ala |