Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420251G>C , CM000669.2:g.94420251G>C | GRCh38 |
| NC_000007.13:g.94049563G>C , CM000669.1:g.94049563G>C | GRCh37 |
| NC_000007.12:g.93887499G>C | NCBI36 |
| NG_007405.1:g.30691G>C , LRG_2:g.30691G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2098G>C MANE Select | NP_000080.2:p.Gly700Arg |
| ENST00000297268.11:c.2098G>C MANE Select | ENSP00000297268.6:p.Gly700Arg |
| NM_000089.3:c.2098G>C , LRG_2t1:c.2098G>C | NP_000080.2:p.Gly700Arg |
| ENST00000297268.10:c.2098G>C | ENSP00000297268.6:p.Gly700Arg |
| ENST00000461525.5:n.187G>C | |
| ENST00000467931.1:n.118G>C | |
| ENST00000473573.5:n.435G>C | |
| ENST00000497316.5:n.495G>C | |
| ENST00000620463.1:c.2092G>C | ENSP00000477719.1:p.Gly698Arg |