Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94419508G>C , CM000669.2:g.94419508G>C | GRCh38 |
| NC_000007.13:g.94048820G>C , CM000669.1:g.94048820G>C | GRCh37 |
| NC_000007.12:g.93886756G>C | NCBI36 |
| NG_007405.1:g.29948G>C , LRG_2:g.29948G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2036G>C MANE Select | NP_000080.2:p.Gly679Ala |
| ENST00000297268.11:c.2036G>C MANE Select | ENSP00000297268.6:p.Gly679Ala |
| NM_000089.3:c.2036G>C , LRG_2t1:c.2036G>C | NP_000080.2:p.Gly679Ala |
| ENST00000297268.10:c.2036G>C | ENSP00000297268.6:p.Gly679Ala |
| ENST00000461525.5:n.125G>C | |
| ENST00000467931.1:n.56G>C | |
| ENST00000473573.5:n.373G>C | |
| ENST00000497316.5:n.433G>C | |
| ENST00000620463.1:c.2030G>C | ENSP00000477719.1:p.Gly677Ala |