Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589917G>A , CM000672.2:g.110589917G>A | GRCh38 |
| NC_000010.10:g.112349675G>A , CM000672.1:g.112349675G>A | GRCh37 |
| NC_000010.9:g.112339665G>A | NCBI36 |
| NG_012217.1:g.27227G>A , LRG_774:g.27227G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1335G>A | ||
| ENST00000684988.1:n.2080G>A | ||
| ENST00000687823.1:n.1349G>A | ||
| ENST00000689932.1:n.3498G>A | ||
| ENST00000691297.1:n.1568G>A | ||
| ENST00000691527.1:n.2238G>A | ||
| ENST00000692792.1:n.1554G>A | ||
| ENST00000361804.5:c.1435G>A MANE Select | ENSP00000354720.5:p.Glu479Lys | |
| ENST00000361804.4:c.1435G>A | ENSP00000354720.4:p.Glu479Lys | |
| NM_005445.3:c.1435G>A , LRG_774t1:c.1435G>A | NP_005436.1:p.Glu479Lys | |
| NM_005445.4:c.1435G>A MANE Select | NP_005436.1:p.Glu479Lys |