Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110589919A>C , CM000672.2:g.110589919A>C | GRCh38 |
| NC_000010.10:g.112349677A>C , CM000672.1:g.112349677A>C | GRCh37 |
| NC_000010.9:g.112339667A>C | NCBI36 |
| NG_012217.1:g.27229A>C , LRG_774:g.27229A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684797.1:n.1337A>C | ||
| ENST00000684988.1:n.2082A>C | ||
| ENST00000687823.1:n.1351A>C | ||
| ENST00000689932.1:n.3500A>C | ||
| ENST00000691297.1:n.1570A>C | ||
| ENST00000691527.1:n.2240A>C | ||
| ENST00000692792.1:n.1556A>C | ||
| ENST00000361804.5:c.1437A>C MANE Select | ENSP00000354720.5:p.Glu479Asp | |
| ENST00000361804.4:c.1437A>C | ENSP00000354720.4:p.Glu479Asp | |
| NM_005445.3:c.1437A>C , LRG_774t1:c.1437A>C | NP_005436.1:p.Glu479Asp | |
| NM_005445.4:c.1437A>C MANE Select | NP_005436.1:p.Glu479Asp |