Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573735C>A , CM000672.2:g.110573735C>A | GRCh38 |
| NC_000010.10:g.112333493C>A , CM000672.1:g.112333493C>A | GRCh37 |
| NC_000010.9:g.112323483C>A | NCBI36 |
| NG_012217.1:g.11045C>A , LRG_774:g.11045C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.253C>A | ||
| ENST00000687823.1:n.45-1601C>A | ||
| ENST00000689932.1:n.593C>A | ||
| ENST00000691297.1:n.253C>A | ||
| ENST00000691527.1:n.210C>A | ||
| ENST00000692792.1:n.239C>A | ||
| ENST00000361804.5:c.120C>A MANE Select | ENSP00000354720.5:p.Asn40Lys | |
| ENST00000361804.4:c.120C>A | ENSP00000354720.4:p.Asn40Lys | |
| ENST00000462899.1:n.266C>A | ||
| NM_005445.3:c.120C>A , LRG_774t1:c.120C>A | NP_005436.1:p.Asn40Lys | |
| NM_005445.4:c.120C>A MANE Select | NP_005436.1:p.Asn40Lys |