Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624505G>C , CM000679.2:g.41624505G>C | GRCh38 |
| NC_000017.10:g.39780757G>C , CM000679.1:g.39780757G>C | GRCh37 |
| NC_000017.9:g.37034283G>C | NCBI36 |
| NG_008625.1:g.5126C>G | |
| NG_009090.2:g.167208C>G , LRG_401:g.167208C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.5C>G MANE Select | ENSP00000308452.8:p.Thr2Ser | |
| ENST00000311208.12:c.5C>G | ENSP00000308452.8:p.Thr2Ser | |
| ENST00000463128.5:c.-313+238C>G | ENSP00000468672.1:n.-313+238C>G | |
| ENST00000491673.1:n.71C>G | ||
| ENST00000540235.5:c.-201C>G | ENSP00000441751.2:n.-201C>G | |
| NM_000422.2:c.5C>G | NP_000413.1:p.Thr2Ser | |
| NM_000422.3:c.5C>G MANE Select | NP_000413.1:p.Thr2Ser |