Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023745A>G , CM000674.2:g.6023745A>G | GRCh38 |
| NC_000012.11:g.6132911A>G , CM000674.1:g.6132911A>G | GRCh37 |
| NC_000012.10:g.6003172A>G | NCBI36 |
| NG_009072.1:g.105926T>C | |
| NG_009072.2:g.105926T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3265T>C MANE Select | ENSP00000261405.5:p.Cys1089Arg | |
| ENST00000261405.9:c.3265T>C | ENSP00000261405.5:p.Cys1089Arg | |
| ENST00000538635.5:n.421-29811T>C | ||
| NM_000552.3:c.3265T>C | NP_000543.2:p.Cys1089Arg | |
| NM_000552.4:c.3265T>C | NP_000543.2:p.Cys1089Arg | |
| NM_000552.5:c.3265T>C MANE Select | NP_000543.3:p.Cys1089Arg |