Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589954A>C , CM000672.2:g.110589954A>C | GRCh38 |
| NC_000010.10:g.112349712A>C , CM000672.1:g.112349712A>C | GRCh37 |
| NC_000010.9:g.112339702A>C | NCBI36 |
| NG_012217.1:g.27264A>C , LRG_774:g.27264A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1372A>C | ||
| ENST00000684988.1:n.2117A>C | ||
| ENST00000687823.1:n.1386A>C | ||
| ENST00000689932.1:n.3535A>C | ||
| ENST00000691297.1:n.1605A>C | ||
| ENST00000691527.1:n.2275A>C | ||
| ENST00000692792.1:n.1591A>C | ||
| ENST00000361804.5:c.1472A>C MANE Select | ENSP00000354720.5:p.Glu491Ala | |
| ENST00000361804.4:c.1472A>C | ENSP00000354720.4:p.Glu491Ala | |
| NM_005445.3:c.1472A>C , LRG_774t1:c.1472A>C | NP_005436.1:p.Glu491Ala | |
| NM_005445.4:c.1472A>C MANE Select | NP_005436.1:p.Glu491Ala |