Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519861T>G , CM000674.2:g.52519861T>G | GRCh38 |
| NC_000012.11:g.52913645T>G , CM000674.1:g.52913645T>G | GRCh37 |
| NC_000012.10:g.51199912T>G | NCBI36 |
| NG_008297.1:g.5599A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.436A>C MANE Select | ENSP00000252242.4:p.Asn146His | |
| ENST00000252242.8:c.436A>C | ENSP00000252242.4:p.Asn146His | |
| ENST00000549420.1:c.106A>C | ENSP00000447209.1:p.Asn36His | |
| ENST00000551275.1:c.331A>C | ENSP00000448041.1:p.Asn111His | |
| ENST00000552629.5:n.534A>C | ||
| NM_000424.3:c.436A>C | NP_000415.2:p.Asn146His | |
| NM_000424.4:c.436A>C MANE Select | NP_000415.2:p.Asn146His |