Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165069181C>A , CM000665.2:g.165069181C>A | GRCh38 |
| NC_000003.11:g.164786969C>A , CM000665.1:g.164786969C>A | GRCh37 |
| NC_000003.10:g.166269663C>A | NCBI36 |
| NG_017043.1:g.14315G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.270G>T MANE Select | ENSP00000264382.3:p.Gln90His | |
| ENST00000264382.7:c.270G>T | ENSP00000264382.3:p.Gln90His | |
| ENST00000476593.1:c.*145G>T | ENSP00000419450.1:n.*145G>T | |
| NM_001041.3:c.270G>T | NP_001032.2:p.Gln90His | |
| XM_011513078.1:c.171G>T | XP_011511380.1:p.Gln57His | |
| XM_011513078.2:c.171G>T | XP_011511380.1:p.Gln57His | |
| NM_001041.4:c.270G>T MANE Select | NP_001032.2:p.Gln90His |