Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985960C>G , CM000678.2:g.1985960C>G | GRCh38 |
| NC_000016.9:g.2035961C>G , CM000678.1:g.2035961C>G | GRCh37 |
| NC_000016.8:g.1975962C>G | NCBI36 |
| NG_016288.1:g.6812C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.325C>G | ENSP00000455885.1:p.Pro109Ala | |
| ENST00000248114.7:c.550C>G MANE Select | ENSP00000248114.6:p.Pro184Ala | |
| ENST00000248114.6:c.550C>G | ENSP00000248114.6:p.Pro184Ala | |
| ENST00000565658.1:n.707C>G | ||
| ENST00000567719.1:c.325C>G | ENSP00000455885.1:p.Pro109Ala | |
| ENST00000569451.1:c.*23C>G | ENSP00000456432.1:n.*23C>G | |
| NM_005262.2:c.550C>G | NP_005253.3:p.Pro184Ala | |
| NM_005262.3:c.550C>G MANE Select | NP_005253.3:p.Pro184Ala |