Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023744C>A , CM000674.2:g.6023744C>A | GRCh38 |
| NC_000012.11:g.6132910C>A , CM000674.1:g.6132910C>A | GRCh37 |
| NC_000012.10:g.6003171C>A | NCBI36 |
| NG_009072.1:g.105927G>T | |
| NG_009072.2:g.105927G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3266G>T MANE Select | ENSP00000261405.5:p.Cys1089Phe | |
| ENST00000261405.9:c.3266G>T | ENSP00000261405.5:p.Cys1089Phe | |
| ENST00000538635.5:n.421-29810G>T | ||
| NM_000552.3:c.3266G>T | NP_000543.2:p.Cys1089Phe | |
| NM_000552.4:c.3266G>T | NP_000543.2:p.Cys1089Phe | |
| NM_000552.5:c.3266G>T MANE Select | NP_000543.3:p.Cys1089Phe |