Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807370A>C , CM000670.2:g.117807370A>C | GRCh38 |
| NC_000008.10:g.118819609A>C , CM000670.1:g.118819609A>C | GRCh37 |
| NC_000008.9:g.118888790A>C | NCBI36 |
| NG_007455.2:g.309450T>G , LRG_493:g.309450T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1197T>G | ||
| ENST00000378204.7:c.1730T>G MANE Select | ENSP00000367446.3:p.Phe577Cys | |
| ENST00000378204.6:c.1730T>G | ENSP00000367446.2:p.Phe577Cys | |
| ENST00000437196.1:c.*621T>G | ENSP00000407299.1:n.*621T>G | |
| NM_000127.2:c.1730T>G , LRG_493t1:c.1730T>G | NP_000118.2:p.Phe577Cys | |
| NM_000127.3:c.1730T>G MANE Select | NP_000118.2:p.Phe577Cys |