Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12790424T>A , CM000686.2:g.12790424T>A | GRCh38 |
| NC_000024.9:g.14902357T>A , CM000686.1:g.14902357T>A | GRCh37 |
| NC_000024.8:g.13411751T>A | NCBI36 |
| NG_008311.1:g.94198T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.3579T>A | ENSP00000498372.1:p.His1193Gln | |
| ENST00000338981.7:c.3579T>A MANE Select | ENSP00000342812.3:p.His1193Gln | |
| ENST00000426564.6:n.3591T>A | ||
| NM_004654.3:c.3579T>A | NP_004645.2:p.His1193Gln | |
| XM_011531469.1:c.3579T>A | XP_011529771.1:p.His1193Gln | |
| XM_011531470.1:c.3345T>A | XP_011529772.1:p.His1115Gln | |
| XM_017030078.2:c.3594T>A | XP_016885567.1:p.His1198Gln | |
| NM_004654.4:c.3579T>A MANE Select | NP_004645.2:p.His1193Gln |