Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17547385G>A , CM000673.2:g.17547385G>A | GRCh38 |
| NC_000011.9:g.17568932G>A , CM000673.1:g.17568932G>A | GRCh37 |
| NC_000011.8:g.17525508G>A | NCBI36 |
| NG_011883.1:g.2032C>T | |
| NG_033191.1:g.5013G>A | |
| NG_011883.2:g.2032C>T | |
| NG_033191.2:g.5013G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.13G>A | ENSP00000382323.2:p.Ala5Thr | |
| ENST00000399397.6:c.13G>A MANE Select | ENSP00000382329.2:p.Ala5Thr | |
| ENST00000399391.6:c.13G>A | ENSP00000382323.2:p.Ala5Thr | |
| ENST00000399397.5:c.13G>A | ENSP00000382329.2:p.Ala5Thr | |
| NM_001277269.1:c.13G>A | NP_001264198.1:p.Ala5Thr | |
| NM_001292063.1:c.13G>A | NP_001278992.1:p.Ala5Thr | |
| NM_001277269.2:c.13G>A | NP_001264198.1:p.Ala5Thr | |
| NM_001292063.2:c.13G>A MANE Select | NP_001278992.1:p.Ala5Thr |