Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053078C>G , CM000664.2:g.223053078C>G | GRCh38 |
| NC_000002.11:g.223917796C>G , CM000664.1:g.223917796C>G | GRCh37 |
| NC_000002.10:g.223626040C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.248C>G MANE Select | ENSP00000281830.5:p.Ala83Gly | |
| ENST00000281830.3:c.401C>G | ENSP00000281830.4:p.Ala134Gly | |
| ENST00000488477.2:n.75+804C>G | ||
| NM_080671.3:c.401C>G | NP_542402.3:p.Ala134Gly | |
| NM_080671.4:c.248C>G MANE Select | NP_542402.4:p.Ala83Gly |