Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149926394A>C , CM000663.2:g.149926394A>C | GRCh38 |
| NC_000001.10:g.149898286A>C , CM000663.1:g.149898286A>C | GRCh37 |
| NC_000001.9:g.148164910A>C | NCBI36 |
| NG_032777.1:g.6859T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.688T>G MANE Select | ENSP00000271628.8:p.Ser230Ala | |
| ENST00000271628.8:c.688T>G | ENSP00000271628.8:p.Ser230Ala | |
| ENST00000457312.1:c.559T>G | ENSP00000391114.1:p.Ser187Ala | |
| NM_005850.4:c.688T>G | NP_005841.1:p.Ser230Ala | |
| NM_005850.5:c.688T>G MANE Select | NP_005841.1:p.Ser230Ala |