Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190402435T>G , CM000665.2:g.190402435T>G | GRCh38 |
| NC_000003.11:g.190120224T>G , CM000665.1:g.190120224T>G | GRCh37 |
| NC_000003.10:g.191602918T>G | NCBI36 |
| NG_008149.1:g.19384T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.213T>G MANE Select | ENSP00000264734.3:p.His71Gln | |
| ENST00000456423.2:c.115-7468T>G | ENSP00000414136.2:n.115-7468T>G | |
| ENST00000264734.2:c.423T>G | ENSP00000264734.2:p.His141Gln | |
| ENST00000456423.1:c.325-7468T>G | ENSP00000414136.1:n.325-7468T>G | |
| ENST00000468220.1:n.405T>G | ||
| NM_006580.3:c.423T>G | NP_006571.1:p.His141Gln | |
| NM_001378492.1:c.213T>G | NP_001365421.1:p.His71Gln | |
| NM_001378493.1:c.213T>G | NP_001365422.1:p.His71Gln | |
| NM_006580.4:c.213T>G MANE Select | NP_006571.2:p.His71Gln |