Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99851539G>T , CM000672.2:g.99851539G>T | GRCh38 |
| NC_000010.10:g.101611296G>T , CM000672.1:g.101611296G>T | GRCh37 |
| NC_000010.9:g.101601286G>T | NCBI36 |
| NG_011798.1:g.73834G>T | |
| NG_011798.2:g.73942G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647814.1:c.4546G>T MANE Select | ENSP00000497274.1:p.Gly1516Cys | |
| ENST00000648523.1:c.616G>T | ||
| ENST00000370449.8:c.4546G>T | ENSP00000359478.4:p.Gly1516Cys | |
| NM_000392.4:c.4546G>T | NP_000383.1:p.Gly1516Cys | |
| XM_006717630.2:c.3850G>T | XP_006717693.1:p.Gly1284Cys | |
| NM_000392.5:c.4546G>T MANE Select | NP_000383.2:p.Gly1516Cys | |
| XM_006717630.3:c.3850G>T | XP_006717693.1:p.Gly1284Cys |