Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94420276G>C , CM000669.2:g.94420276G>C | GRCh38 |
| NC_000007.13:g.94049588G>C , CM000669.1:g.94049588G>C | GRCh37 |
| NC_000007.12:g.93887524G>C | NCBI36 |
| NG_007405.1:g.30716G>C , LRG_2:g.30716G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2123G>C MANE Select | NP_000080.2:p.Arg708Pro |
| ENST00000297268.11:c.2123G>C MANE Select | ENSP00000297268.6:p.Arg708Pro |
| NM_000089.3:c.2123G>C , LRG_2t1:c.2123G>C | NP_000080.2:p.Arg708Pro |
| ENST00000297268.10:c.2123G>C | ENSP00000297268.6:p.Arg708Pro |
| ENST00000461525.5:n.212G>C | |
| ENST00000467931.1:n.143G>C | |
| ENST00000473573.5:n.460G>C | |
| ENST00000497316.5:n.520G>C | |
| ENST00000620463.1:c.2117G>C | ENSP00000477719.1:p.Arg706Pro |