Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56981179G>A , CM000678.2:g.56981179G>A | GRCh38 |
| NC_000016.9:g.57015091G>A , CM000678.1:g.57015091G>A | GRCh37 |
| NC_000016.8:g.55572592G>A | NCBI36 |
| NG_008952.1:g.24257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.1168G>A MANE Select | ENSP00000200676.3:p.Ala390Thr | |
| ENST00000650358.1:n.1566G>A | ||
| ENST00000200676.7:c.1168G>A | ENSP00000200676.3:p.Ala390Thr | |
| ENST00000379780.6:c.988G>A | ENSP00000369106.2:p.Ala330Thr | |
| ENST00000566128.1:c.973G>A | ENSP00000456276.1:p.Ala325Thr | |
| NM_000078.2:c.1168G>A | NP_000069.2:p.Ala390Thr | |
| NM_001286085.1:c.988G>A | NP_001273014.1:p.Ala330Thr | |
| NM_000078.3:c.1168G>A MANE Select | NP_000069.2:p.Ala390Thr | |
| NM_001286085.2:c.988G>A | NP_001273014.1:p.Ala330Thr |