Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425472C>G , CM000664.2:g.84425472C>G | GRCh38 |
| NC_000002.11:g.84652596C>G , CM000664.1:g.84652596C>G | GRCh37 |
| NC_000002.10:g.84506107C>G | NCBI36 |
| NG_016755.1:g.38991G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.957G>C MANE Select | ENSP00000377446.2:p.Gln319His | |
| ENST00000651342.1:c.*397G>C | ENSP00000498471.1:n.*397G>C | |
| ENST00000393868.6:c.957G>C | ENSP00000377446.2:p.Gln319His | |
| ENST00000484365.1:n.1465G>C | ||
| ENST00000487809.1:n.704G>C | ||
| ENST00000491123.5:n.803G>C | ||
| NM_003849.3:c.957G>C | NP_003840.2:p.Gln319His | |
| NM_003849.4:c.957G>C MANE Select | NP_003840.2:p.Gln319His |