Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10877303G>C , CM000668.2:g.10877303G>C | GRCh38 |
| NC_000006.11:g.10877536G>C , CM000668.1:g.10877536G>C | GRCh37 |
| NC_000006.10:g.10985522G>C | NCBI36 |
| NG_008970.1:g.9563C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379491.5:c.180C>G MANE Select | ENSP00000368805.4:p.His60Gln | |
| ENST00000379491.4:c.180C>G | ENSP00000368805.4:p.His60Gln | |
| ENST00000480294.1:c.101-14210G>C | ENSP00000417929.1:n.101-14210G>C | |
| NM_004752.3:c.180C>G | NP_004743.1:p.His60Gln | |
| XM_011514991.1:c.180C>G | XP_011513293.1:p.His60Gln | |
| NM_004752.4:c.180C>G MANE Select | NP_004743.1:p.His60Gln |