Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11934831G>A , CM000663.2:g.11934831G>A | GRCh38 |
| NC_000001.10:g.11994888G>A , CM000663.1:g.11994888G>A | GRCh37 |
| NC_000001.9:g.11917475G>A | NCBI36 |
| NG_008159.1:g.5143G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.52G>A MANE Select | ENSP00000196061.4:p.Ala18Thr | |
| ENST00000196061.4:c.52G>A | ENSP00000196061.4:p.Ala18Thr | |
| ENST00000358133.5:n.98G>A | ||
| ENST00000429000.6:c.52G>A | ENSP00000405372.1:p.Ala18Thr | |
| ENST00000449038.5:c.52G>A | ENSP00000414443.1:p.Ala18Thr | |
| ENST00000485046.5:n.119+508G>A | ||
| NM_000302.3:c.52G>A | NP_000293.2:p.Ala18Thr | |
| NM_001316320.1:c.52G>A | NP_001303249.1:p.Ala18Thr | |
| NM_000302.4:c.52G>A MANE Select | NP_000293.2:p.Ala18Thr | |
| NM_001316320.2:c.52G>A | NP_001303249.1:p.Ala18Thr |