Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94417796G>T , CM000669.2:g.94417796G>T | GRCh38 |
| NC_000007.13:g.94047108G>T , CM000669.1:g.94047108G>T | GRCh37 |
| NC_000007.12:g.93885044G>T | NCBI36 |
| NG_007405.1:g.28236G>T , LRG_2:g.28236G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.1936G>T MANE Select | NP_000080.2:p.Gly646Cys |
| ENST00000297268.11:c.1936G>T MANE Select | ENSP00000297268.6:p.Gly646Cys |
| NM_000089.3:c.1936G>T , LRG_2t1:c.1936G>T | NP_000080.2:p.Gly646Cys |
| ENST00000297268.10:c.1936G>T | ENSP00000297268.6:p.Gly646Cys |
| ENST00000461525.5:n.25G>T | |
| ENST00000473573.5:n.273G>T | |
| ENST00000497316.5:n.333G>T | |
| ENST00000620463.1:c.1930G>T | ENSP00000477719.1:p.Gly644Cys |