Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94413927C>A , CM000669.2:g.94413927C>A | GRCh38 |
| NC_000007.13:g.94043239C>A , CM000669.1:g.94043239C>A | GRCh37 |
| NC_000007.12:g.93881175C>A | NCBI36 |
| NG_007405.1:g.24367C>A , LRG_2:g.24367C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1645C>A MANE Select | NP_000080.2:p.Pro549Thr |
| ENST00000297268.11:c.1645C>A MANE Select | ENSP00000297268.6:p.Pro549Thr |
| NM_000089.3:c.1645C>A , LRG_2t1:c.1645C>A | NP_000080.2:p.Pro549Thr |
| ENST00000297268.10:c.1645C>A | ENSP00000297268.6:p.Pro549Thr |
| ENST00000488298.5:n.69C>A | |
| ENST00000620463.1:c.1639C>A | ENSP00000477719.1:p.Pro547Thr |