Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320320A>C , CM000667.2:g.159320320A>C | GRCh38 |
| NC_000005.9:g.158747328A>C , CM000667.1:g.158747328A>C | GRCh37 |
| NC_000005.8:g.158679906A>C | NCBI36 |
| NG_009618.1:g.15154T>G , LRG_71:g.15154T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.53T>G | ENSP00000512849.1:p.Phe18Cys | |
| ENST00000696751.1:c.*178T>G | ENSP00000512850.1:n.*178T>G | |
| ENST00000231228.3:c.683T>G MANE Select | ENSP00000231228.2:p.Phe228Cys | |
| ENST00000231228.2:c.683T>G | ENSP00000231228.2:p.Phe228Cys | |
| NM_002187.2:c.683T>G , LRG_71t1:c.683T>G | NP_002178.2:p.Phe228Cys | |
| NM_002187.3:c.683T>G MANE Select | NP_002178.2:p.Phe228Cys |