Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811869G>A , CM000677.2:g.71811869G>A | GRCh38 |
| NC_000015.9:g.72104209G>A , CM000677.1:g.72104209G>A | GRCh37 |
| NC_000015.8:g.69891263G>A | NCBI36 |
| NG_009113.2:g.6315G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014249.4:c.349G>A MANE Select | NP_055064.1:p.Ala117Thr |
| ENST00000617575.5:c.349G>A MANE Select | ENSP00000482504.1:p.Ala117Thr |
| NM_014249.3:c.349G>A | NP_055064.1:p.Ala117Thr |
| NM_016346.3:c.349G>A | NP_057430.1:p.Ala117Thr |
| NM_016346.4:c.349G>A | NP_057430.1:p.Ala117Thr |
| ENST00000617575.4:c.349G>A | ENSP00000482504.1:p.Ala117Thr |
| ENST00000621098.1:c.349G>A | ENSP00000479962.1:p.Ala117Thr |
| ENST00000621736.4:c.85G>A | ENSP00000479254.1:p.Ala29Thr |
| XM_011521146.1:c.85G>A | XP_011519448.1:p.Ala29Thr |