Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602166A>T , CM000672.2:g.110602166A>T | GRCh38 |
| NC_000010.10:g.112361924A>T , CM000672.1:g.112361924A>T | GRCh37 |
| NC_000010.9:g.112351914A>T | NCBI36 |
| NG_012217.1:g.39476A>T , LRG_774:g.39476A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5326A>T | ||
| ENST00000685743.1:n.2801A>T | ||
| ENST00000686057.1:n.1444A>T | ||
| ENST00000689321.1:n.2056A>T | ||
| ENST00000689986.1:n.882A>T | ||
| ENST00000361804.5:c.3093A>T MANE Select | ENSP00000354720.5:p.Leu1031Phe | |
| ENST00000361804.4:c.3093A>T | ENSP00000354720.4:p.Leu1031Phe | |
| NM_005445.3:c.3093A>T , LRG_774t1:c.3093A>T | NP_005436.1:p.Leu1031Phe | |
| NM_005445.4:c.3093A>T MANE Select | NP_005436.1:p.Leu1031Phe |