Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94416433G>C , CM000669.2:g.94416433G>C | GRCh38 |
| NC_000007.13:g.94045745G>C , CM000669.1:g.94045745G>C | GRCh37 |
| NC_000007.12:g.93883681G>C | NCBI36 |
| NG_007405.1:g.26873G>C , LRG_2:g.26873G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1793G>C MANE Select | NP_000080.2:p.Gly598Ala |
| ENST00000297268.11:c.1793G>C MANE Select | ENSP00000297268.6:p.Gly598Ala |
| NM_000089.3:c.1793G>C , LRG_2t1:c.1793G>C | NP_000080.2:p.Gly598Ala |
| ENST00000297268.10:c.1793G>C | ENSP00000297268.6:p.Gly598Ala |
| ENST00000473573.5:n.130G>C | |
| ENST00000488298.5:n.217G>C | |
| ENST00000620463.1:c.1787G>C | ENSP00000477719.1:p.Gly596Ala |