Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94418517G>C , CM000669.2:g.94418517G>C | GRCh38 |
| NC_000007.13:g.94047829G>C , CM000669.1:g.94047829G>C | GRCh37 |
| NC_000007.12:g.93885765G>C | NCBI36 |
| NG_007405.1:g.28957G>C , LRG_2:g.28957G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1990G>C MANE Select | NP_000080.2:p.Gly664Arg |
| ENST00000297268.11:c.1990G>C MANE Select | ENSP00000297268.6:p.Gly664Arg |
| NM_000089.3:c.1990G>C , LRG_2t1:c.1990G>C | NP_000080.2:p.Gly664Arg |
| ENST00000297268.10:c.1990G>C | ENSP00000297268.6:p.Gly664Arg |
| ENST00000461525.5:n.79G>C | |
| ENST00000473573.5:n.327G>C | |
| ENST00000497316.5:n.387G>C | |
| ENST00000620463.1:c.1984G>C | ENSP00000477719.1:p.Gly662Arg |