Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144362T>G , CM000670.2:g.38144362T>G | GRCh38 |
| NC_000008.10:g.38001880T>G , CM000670.1:g.38001880T>G | GRCh37 |
| NC_000008.9:g.38121037T>G | NCBI36 |
| NG_011827.1:g.11721A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.769A>C MANE Select | ENSP00000276449.3:p.Asn257His | |
| ENST00000276449.8:c.769A>C | ENSP00000276449.3:p.Asn257His | |
| ENST00000520114.1:n.2738A>C | ||
| ENST00000522050.1:c.611A>C | ||
| NM_000349.2:c.769A>C | NP_000340.2:p.Asn257His | |
| XM_006716392.1:c.675A>C | XP_006716455.1:p.Ser225= | |
| NM_000349.3:c.769A>C MANE Select | NP_000340.2:p.Asn257His |