Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84425596T>C , CM000664.2:g.84425596T>C | GRCh38 |
| NC_000002.11:g.84652720T>C , CM000664.1:g.84652720T>C | GRCh37 |
| NC_000002.10:g.84506231T>C | NCBI36 |
| NG_016755.1:g.38867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.833A>G MANE Select | ENSP00000377446.2:p.Asn278Ser | |
| ENST00000651342.1:c.*273A>G | ENSP00000498471.1:n.*273A>G | |
| ENST00000393868.6:c.833A>G | ENSP00000377446.2:p.Asn278Ser | |
| ENST00000484365.1:n.1341A>G | ||
| ENST00000487809.1:n.580A>G | ||
| ENST00000491123.5:n.679A>G | ||
| NM_003849.3:c.833A>G | NP_003840.2:p.Asn278Ser | |
| NM_003849.4:c.833A>G MANE Select | NP_003840.2:p.Asn278Ser |