Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110602002A>C , CM000672.2:g.110602002A>C | GRCh38 |
| NC_000010.10:g.112361760A>C , CM000672.1:g.112361760A>C | GRCh37 |
| NC_000010.9:g.112351750A>C | NCBI36 |
| NG_012217.1:g.39312A>C , LRG_774:g.39312A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.5162A>C | ||
| ENST00000685743.1:n.2637A>C | ||
| ENST00000686057.1:n.1280A>C | ||
| ENST00000689321.1:n.1892A>C | ||
| ENST00000689986.1:n.718A>C | ||
| ENST00000361804.5:c.2929A>C MANE Select | ENSP00000354720.5:p.Lys977Gln | |
| ENST00000361804.4:c.2929A>C | ENSP00000354720.4:p.Lys977Gln | |
| NM_005445.3:c.2929A>C , LRG_774t1:c.2929A>C | NP_005436.1:p.Lys977Gln | |
| NM_005445.4:c.2929A>C MANE Select | NP_005436.1:p.Lys977Gln |