Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94421055G>C , CM000669.2:g.94421055G>C | GRCh38 |
| NC_000007.13:g.94050367G>C , CM000669.1:g.94050367G>C | GRCh37 |
| NC_000007.12:g.93888303G>C | NCBI36 |
| NG_007405.1:g.31495G>C , LRG_2:g.31495G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2342G>C MANE Select | NP_000080.2:p.Gly781Ala |
| ENST00000297268.11:c.2342G>C MANE Select | ENSP00000297268.6:p.Gly781Ala |
| NM_000089.3:c.2342G>C , LRG_2t1:c.2342G>C | NP_000080.2:p.Gly781Ala |
| ENST00000297268.10:c.2342G>C | ENSP00000297268.6:p.Gly781Ala |
| ENST00000461525.5:n.431G>C | |
| ENST00000473573.5:n.679G>C | |
| ENST00000497316.5:n.739G>C | |
| ENST00000620463.1:c.2336G>C | ENSP00000477719.1:p.Gly779Ala |