Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573737T>G , CM000672.2:g.110573737T>G | GRCh38 |
| NC_000010.10:g.112333495T>G , CM000672.1:g.112333495T>G | GRCh37 |
| NC_000010.9:g.112323485T>G | NCBI36 |
| NG_012217.1:g.11047T>G , LRG_774:g.11047T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.255T>G | ||
| ENST00000687823.1:n.45-1599T>G | ||
| ENST00000689932.1:n.595T>G | ||
| ENST00000691297.1:n.255T>G | ||
| ENST00000691527.1:n.212T>G | ||
| ENST00000692792.1:n.241T>G | ||
| ENST00000361804.5:c.122T>G MANE Select | ENSP00000354720.5:p.Phe41Cys | |
| ENST00000361804.4:c.122T>G | ENSP00000354720.4:p.Phe41Cys | |
| ENST00000462899.1:n.268T>G | ||
| NM_005445.3:c.122T>G , LRG_774t1:c.122T>G | NP_005436.1:p.Phe41Cys | |
| NM_005445.4:c.122T>G MANE Select | NP_005436.1:p.Phe41Cys |