Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.84431640A>C , CM000664.2:g.84431640A>C | GRCh38 |
| NC_000002.11:g.84658764A>C , CM000664.1:g.84658764A>C | GRCh37 |
| NC_000002.10:g.84512275A>C | NCBI36 |
| NG_016755.1:g.32823T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393868.7:c.693T>G MANE Select | ENSP00000377446.2:p.Phe231Leu | |
| ENST00000651342.1:c.*133T>G | ENSP00000498471.1:n.*133T>G | |
| ENST00000393868.6:c.693T>G | ENSP00000377446.2:p.Phe231Leu | |
| ENST00000487809.1:n.440T>G | ||
| ENST00000491123.5:n.539T>G | ||
| NM_003849.3:c.693T>G | NP_003840.2:p.Phe231Leu | |
| NM_003849.4:c.693T>G MANE Select | NP_003840.2:p.Phe231Leu |