Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213488C>A , CM000667.2:g.1213488C>A | GRCh38 |
| NC_000005.9:g.1213603C>A , CM000667.1:g.1213603C>A | GRCh37 |
| NC_000005.8:g.1266603C>A | NCBI36 |
| NG_008282.1:g.16894C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.689C>A MANE Select | ENSP00000305302.10:p.Pro230His | |
| ENST00000304460.10:c.689C>A | ENSP00000305302.10:p.Pro230His | |
| ENST00000515652.5:c.597C>A | ENSP00000425701.1:p.Ala199= | |
| NM_001003841.2:c.689C>A | NP_001003841.1:p.Pro230His | |
| NM_001003841.3:c.689C>A MANE Select | NP_001003841.1:p.Pro230His |