Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.216122067C>A , CM000664.2:g.216122067C>A | GRCh38 |
| NC_000002.11:g.216986790C>A , CM000664.1:g.216986790C>A | GRCh37 |
| NC_000002.10:g.216695035C>A | NCBI36 |
| NG_029780.1:g.17771C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392132.7:c.497C>A MANE Select | ENSP00000375977.2:p.Pro166His | |
| ENST00000392132.6:c.497C>A | ENSP00000375977.2:p.Pro166His | |
| ENST00000392133.7:c.497C>A | ENSP00000375978.3:p.Pro166His | |
| ENST00000460284.5:n.1039C>A | ||
| NM_021141.3:c.497C>A | NP_066964.1:p.Pro166His | |
| NM_021141.4:c.497C>A MANE Select | NP_066964.1:p.Pro166His |