Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94419525G>T , CM000669.2:g.94419525G>T | GRCh38 |
| NC_000007.13:g.94048837G>T , CM000669.1:g.94048837G>T | GRCh37 |
| NC_000007.12:g.93886773G>T | NCBI36 |
| NG_007405.1:g.29965G>T , LRG_2:g.29965G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.2053G>T MANE Select | NP_000080.2:p.Gly685Cys |
| ENST00000297268.11:c.2053G>T MANE Select | ENSP00000297268.6:p.Gly685Cys |
| NM_000089.3:c.2053G>T , LRG_2t1:c.2053G>T | NP_000080.2:p.Gly685Cys |
| ENST00000297268.10:c.2053G>T | ENSP00000297268.6:p.Gly685Cys |
| ENST00000461525.5:n.142G>T | |
| ENST00000467931.1:n.73G>T | |
| ENST00000473573.5:n.390G>T | |
| ENST00000497316.5:n.450G>T | |
| ENST00000620463.1:c.2047G>T | ENSP00000477719.1:p.Gly683Cys |