Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601708A>C , CM000672.2:g.110601708A>C | GRCh38 |
| NC_000010.10:g.112361466A>C , CM000672.1:g.112361466A>C | GRCh37 |
| NC_000010.9:g.112351456A>C | NCBI36 |
| NG_012217.1:g.39018A>C , LRG_774:g.39018A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.4949A>C | ||
| ENST00000685743.1:n.2424A>C | ||
| ENST00000686057.1:n.1067A>C | ||
| ENST00000689321.1:n.1679A>C | ||
| ENST00000689986.1:n.505A>C | ||
| ENST00000361804.5:c.2716A>C MANE Select | ENSP00000354720.5:p.Asn906His | |
| ENST00000361804.4:c.2716A>C | ENSP00000354720.4:p.Asn906His | |
| NM_005445.3:c.2716A>C , LRG_774t1:c.2716A>C | NP_005436.1:p.Asn906His | |
| NM_005445.4:c.2716A>C MANE Select | NP_005436.1:p.Asn906His |