Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34255407C>G , CM000679.2:g.34255407C>G | GRCh38 |
| NC_000017.10:g.32582426C>G , CM000679.1:g.32582426C>G | GRCh37 |
| NC_000017.9:g.29606539C>G | NCBI36 |
| NG_012123.1:g.5131C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580907.6:c.58C>G | ENSP00000462156.1:p.Gln20Glu | |
| ENST00000624362.2:n.123C>G | ||
| ENST00000225831.4:c.58C>G MANE Select | ENSP00000225831.4:p.Gln20Glu | |
| ENST00000580907.5:c.58C>G | ENSP00000462156.1:p.Gln20Glu | |
| ENST00000624362.1:n.190C>G | ||
| NM_002982.3:c.58C>G | NP_002973.1:p.Gln20Glu | |
| NM_002982.4:c.58C>G MANE Select | NP_002973.1:p.Gln20Glu |