Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6713465A>C , CM000681.2:g.6713465A>C | GRCh38 |
| NC_000019.9:g.6713476A>C , CM000681.1:g.6713476A>C | GRCh37 |
| NC_000019.8:g.6664476A>C | NCBI36 |
| NG_009557.1:g.12187T>G , LRG_27:g.12187T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.695T>G | ENSP00000512083.1:p.Phe232Cys | |
| ENST00000695692.1:n.142T>G | ||
| ENST00000245907.11:c.818T>G MANE Select | ENSP00000245907.4:p.Phe273Cys | |
| ENST00000245907.10:c.818T>G | ENSP00000245907.4:p.Phe273Cys | |
| ENST00000595577.1:n.322T>G | ||
| ENST00000597442.5:n.68T>G | ||
| NM_000064.3:c.818T>G | NP_000055.2:p.Phe273Cys | |
| NM_000064.4:c.818T>G MANE Select | NP_000055.2:p.Phe273Cys |