Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119753293C>A , CM000663.2:g.119753293C>A | GRCh38 |
| NC_000001.10:g.120295916C>A , CM000663.1:g.120295916C>A | GRCh37 |
| NC_000001.9:g.120097439C>A | NCBI36 |
| NG_013348.1:g.20640G>T , LRG_447:g.20640G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369406.8:c.1281G>T MANE Select | ENSP00000358414.3:p.Gln427His | |
| ENST00000369406.7:c.1281G>T | ENSP00000358414.3:p.Gln427His | |
| ENST00000544913.2:c.1155G>T | ENSP00000439495.2:p.Gln385His | |
| NM_001166107.1:c.1155G>T , LRG_447t2:c.1155G>T | NP_001159579.1:p.Gln385His | |
| NM_005518.3:c.1281G>T , LRG_447t1:c.1281G>T | NP_005509.1:p.Gln427His | |
| XM_011541313.1:c.1116G>T | XP_011539615.1:p.Gln372His | |
| XM_011541313.2:c.1116G>T | XP_011539615.1:p.Gln372His | |
| NM_005518.4:c.1281G>T MANE Select | NP_005509.1:p.Gln427His |