Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213478T>G , CM000667.2:g.1213478T>G | GRCh38 |
| NC_000005.9:g.1213593T>G , CM000667.1:g.1213593T>G | GRCh37 |
| NC_000005.8:g.1266593T>G | NCBI36 |
| NG_008282.1:g.16884T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.679T>G MANE Select | ENSP00000305302.10:p.Ser227Ala | |
| ENST00000304460.10:c.679T>G | ENSP00000305302.10:p.Ser227Ala | |
| ENST00000515652.5:c.587T>G | ENSP00000425701.1:p.Leu196Arg | |
| NM_001003841.2:c.679T>G | NP_001003841.1:p.Ser227Ala | |
| NM_001003841.3:c.679T>G MANE Select | NP_001003841.1:p.Ser227Ala |