Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589906A>C , CM000672.2:g.110589906A>C | GRCh38 |
| NC_000010.10:g.112349664A>C , CM000672.1:g.112349664A>C | GRCh37 |
| NC_000010.9:g.112339654A>C | NCBI36 |
| NG_012217.1:g.27216A>C , LRG_774:g.27216A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1324A>C | ||
| ENST00000684988.1:n.2069A>C | ||
| ENST00000687823.1:n.1338A>C | ||
| ENST00000689932.1:n.3487A>C | ||
| ENST00000691297.1:n.1557A>C | ||
| ENST00000691527.1:n.2227A>C | ||
| ENST00000692792.1:n.1543A>C | ||
| ENST00000361804.5:c.1424A>C MANE Select | ENSP00000354720.5:p.Glu475Ala | |
| ENST00000361804.4:c.1424A>C | ENSP00000354720.4:p.Glu475Ala | |
| NM_005445.3:c.1424A>C , LRG_774t1:c.1424A>C | NP_005436.1:p.Glu475Ala | |
| NM_005445.4:c.1424A>C MANE Select | NP_005436.1:p.Glu475Ala |