Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94423028A>T , CM000669.2:g.94423028A>T | GRCh38 |
| NC_000007.13:g.94052340A>T , CM000669.1:g.94052340A>T | GRCh37 |
| NC_000007.12:g.93890276A>T | NCBI36 |
| NG_007405.1:g.33468A>T , LRG_2:g.33468A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2475A>T MANE Select | ENSP00000297268.6:p.Gln825His | |
| ENST00000297268.10:c.2475A>T | ENSP00000297268.6:p.Gln825His | |
| ENST00000481570.5:n.558A>T | ||
| ENST00000497316.5:n.872A>T | ||
| ENST00000620463.1:c.2469A>T | ENSP00000477719.1:p.Gln823His | |
| NM_000089.3:c.2475A>T , LRG_2t1:c.2475A>T | NP_000080.2:p.Gln825His | |
| NM_000089.4:c.2475A>T MANE Select | NP_000080.2:p.Gln825His |