Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516788T>G , CM000674.2:g.52516788T>G | GRCh38 |
| NC_000012.11:g.52910572T>G , CM000674.1:g.52910572T>G | GRCh37 |
| NC_000012.10:g.51196839T>G | NCBI36 |
| NG_008297.1:g.8672A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1288A>C MANE Select | ENSP00000252242.4:p.Asn430His | |
| ENST00000252242.8:c.1288A>C | ENSP00000252242.4:p.Asn430His | |
| ENST00000547890.5:n.666A>C | ||
| ENST00000548409.5:c.410A>C | ||
| ENST00000549511.5:n.495A>C | ||
| ENST00000552629.5:n.1386A>C | ||
| NM_000424.3:c.1288A>C | NP_000415.2:p.Asn430His | |
| NM_000424.4:c.1288A>C MANE Select | NP_000415.2:p.Asn430His |