Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48829484G>A , CM000685.2:g.48829484G>A | GRCh38 |
| NC_000023.10:g.48687894G>A , CM000685.1:g.48687894G>A | GRCh37 |
| NC_000023.9:g.48572838G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636362.1:c.361G>A MANE Select | ENSP00000490793.1:p.Ala121Thr | |
| ENST00000338270.1:c.361G>A | ENSP00000339136.1:p.Ala121Thr | |
| NM_181532.3:c.361G>A MANE Select | NP_853510.1:p.Ala121Thr |