Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372142C>T , CM000680.2:g.60372142C>T | GRCh38 |
| NC_000018.9:g.58039375C>T , CM000680.1:g.58039375C>T | GRCh37 |
| NC_000018.8:g.56190355C>T | NCBI36 |
| NG_016441.1:g.5627G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299766.5:c.208G>A MANE Select | ENSP00000299766.3:p.Ala70Thr | |
| ENST00000299766.4:c.208G>A | ENSP00000299766.3:p.Ala70Thr | |
| NM_005912.2:c.208G>A | NP_005903.2:p.Ala70Thr | |
| NM_005912.3:c.208G>A MANE Select | NP_005903.2:p.Ala70Thr |