Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986020T>G , CM000678.2:g.1986020T>G | GRCh38 |
| NC_000016.9:g.2036021T>G , CM000678.1:g.2036021T>G | GRCh37 |
| NC_000016.8:g.1976022T>G | NCBI36 |
| NG_016288.1:g.6872T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.385T>G | ENSP00000455885.1:p.Cys129Gly | |
| ENST00000248114.7:c.610T>G MANE Select | ENSP00000248114.6:p.Cys204Gly | |
| ENST00000248114.6:c.610T>G | ENSP00000248114.6:p.Cys204Gly | |
| ENST00000565658.1:n.767T>G | ||
| ENST00000567719.1:c.385T>G | ENSP00000455885.1:p.Cys129Gly | |
| ENST00000569451.1:c.*83T>G | ENSP00000456432.1:n.*83T>G | |
| NM_005262.2:c.610T>G | NP_005253.3:p.Cys204Gly | |
| NM_005262.3:c.610T>G MANE Select | NP_005253.3:p.Cys204Gly |