Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94413927C>G , CM000669.2:g.94413927C>G | GRCh38 |
| NC_000007.13:g.94043239C>G , CM000669.1:g.94043239C>G | GRCh37 |
| NC_000007.12:g.93881175C>G | NCBI36 |
| NG_007405.1:g.24367C>G , LRG_2:g.24367C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1645C>G MANE Select | NP_000080.2:p.Pro549Ala |
| ENST00000297268.11:c.1645C>G MANE Select | ENSP00000297268.6:p.Pro549Ala |
| NM_000089.3:c.1645C>G , LRG_2t1:c.1645C>G | NP_000080.2:p.Pro549Ala |
| ENST00000297268.10:c.1645C>G | ENSP00000297268.6:p.Pro549Ala |
| ENST00000488298.5:n.69C>G | |
| ENST00000620463.1:c.1639C>G | ENSP00000477719.1:p.Pro547Ala |