Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553454T>G , CM000673.2:g.17553454T>G | GRCh38 |
| NC_000011.9:g.17575001T>G , CM000673.1:g.17575001T>G | GRCh37 |
| NC_000011.8:g.17531577T>G | NCBI36 |
| NG_033191.1:g.11082T>G | |
| NG_033191.2:g.11082T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.511T>G | ENSP00000382323.2:p.Ser171Ala | |
| ENST00000399397.6:c.475T>G MANE Select | ENSP00000382329.2:p.Ser159Ala | |
| ENST00000399391.6:c.511T>G | ENSP00000382323.2:p.Ser171Ala | |
| ENST00000399397.5:c.475T>G | ENSP00000382329.2:p.Ser159Ala | |
| ENST00000498332.5:n.381T>G | ||
| NM_001277269.1:c.511T>G | NP_001264198.1:p.Ser171Ala | |
| NM_001292063.1:c.475T>G | NP_001278992.1:p.Ser159Ala | |
| NM_001277269.2:c.511T>G | NP_001264198.1:p.Ser171Ala | |
| NM_001292063.2:c.475T>G MANE Select | NP_001278992.1:p.Ser159Ala |