Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154816C>G , CM000681.2:g.55154816C>G | GRCh38 |
| NC_000019.9:g.55666184C>G , CM000681.1:g.55666184C>G | GRCh37 |
| NC_000019.8:g.60357996C>G | NCBI36 |
| NG_007866.2:g.7917G>C , LRG_432:g.7917G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.297G>C MANE Select | ENSP00000341838.5:p.Gln99His | |
| ENST00000665070.1:c.297G>C | ENSP00000499482.1:p.Gln99His | |
| ENST00000344887.9:c.297G>C | ENSP00000341838.5:p.Gln99His | |
| ENST00000585806.5:n.296G>C | ||
| ENST00000586669.5:n.305G>C | ||
| ENST00000587176.5:n.481G>C | ||
| ENST00000587871.1:c.916G>C | ||
| ENST00000588882.1:c.222G>C | ENSP00000466729.1:p.Gln74His | |
| ENST00000590463.1:n.469G>C | ||
| NM_000363.4:c.297G>C , LRG_432t1:c.297G>C | NP_000354.4:p.Gln99His | |
| NM_000363.5:c.297G>C MANE Select | NP_000354.4:p.Gln99His |