Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602067A>T , CM000672.2:g.110602067A>T | GRCh38 |
| NC_000010.10:g.112361825A>T , CM000672.1:g.112361825A>T | GRCh37 |
| NC_000010.9:g.112351815A>T | NCBI36 |
| NG_012217.1:g.39377A>T , LRG_774:g.39377A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5227A>T | ||
| ENST00000685743.1:n.2702A>T | ||
| ENST00000686057.1:n.1345A>T | ||
| ENST00000689321.1:n.1957A>T | ||
| ENST00000689986.1:n.783A>T | ||
| ENST00000361804.5:c.2994A>T MANE Select | ENSP00000354720.5:p.Glu998Asp | |
| ENST00000361804.4:c.2994A>T | ENSP00000354720.4:p.Glu998Asp | |
| NM_005445.3:c.2994A>T , LRG_774t1:c.2994A>T | NP_005436.1:p.Glu998Asp | |
| NM_005445.4:c.2994A>T MANE Select | NP_005436.1:p.Glu998Asp |