Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.111253163G>A , CM000685.2:g.111253163G>A | GRCh38 |
| NC_000023.10:g.110496391G>A , CM000685.1:g.110496391G>A | GRCh37 |
| NC_000023.9:g.110383047G>A | NCBI36 |
| NG_015962.1:g.22384C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324068.2:c.351C>T MANE Select | ENSP00000317214.1:p.Tyr117= | |
| ENST00000324068.1:c.351C>T | ENSP00000317214.1:p.Tyr117= | |
| NM_014289.3:c.351C>T | NP_055104.2:p.Tyr117= | |
| NM_014289.4:c.351C>T MANE Select | NP_055104.2:p.Tyr117= |