Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94416486G>C , CM000669.2:g.94416486G>C | GRCh38 |
| NC_000007.13:g.94045798G>C , CM000669.1:g.94045798G>C | GRCh37 |
| NC_000007.12:g.93883734G>C | NCBI36 |
| NG_007405.1:g.26926G>C , LRG_2:g.26926G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1846G>C MANE Select | NP_000080.2:p.Gly616Arg |
| ENST00000297268.11:c.1846G>C MANE Select | ENSP00000297268.6:p.Gly616Arg |
| NM_000089.3:c.1846G>C , LRG_2t1:c.1846G>C | NP_000080.2:p.Gly616Arg |
| ENST00000297268.10:c.1846G>C | ENSP00000297268.6:p.Gly616Arg |
| ENST00000473573.5:n.183G>C | |
| ENST00000488298.5:n.270G>C | |
| ENST00000620463.1:c.1840G>C | ENSP00000477719.1:p.Gly614Arg |