| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.76429602G>A , CM000669.2:g.76429602G>A | GRCh38 |
| NC_000007.13:g.76058919G>A , CM000669.1:g.76058919G>A | GRCh37 |
| NC_000007.12:g.75896855G>A | NCBI36 |
| NG_033938.1:g.37079G>A |
| HGVS | Amino-acid Change |
|---|---|
| NM_001110354.2:c.400G>A MANE Select | NP_001103824.1:p.Ala134Thr |
| ENST00000394857.8:c.400G>A MANE Select | ENSP00000378326.3:p.Ala134Thr |
| NM_001110354.1:c.400G>A | NP_001103824.1:p.Ala134Thr |
| NM_007155.5:c.247G>A | NP_009086.4:p.Ala83Thr |
| NM_007155.6:c.247G>A | NP_009086.4:p.Ala83Thr |
| ENST00000336517.8:c.247G>A | ENSP00000337310.4:p.Ala83Thr |
| ENST00000394857.7:c.400G>A | ENSP00000378326.3:p.Ala134Thr |
| ENST00000416245.5:c.-129G>A | ENSP00000411955.1:n.-129G>A |
| XM_017012586.2:c.247G>A | XP_016868075.1:p.Ala83Thr |