Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16327678A>C , CM000668.2:g.16327678A>C | GRCh38 |
| NC_000006.11:g.16327909A>C , CM000668.1:g.16327909A>C | GRCh37 |
| NC_000006.10:g.16435888A>C | NCBI36 |
| NG_011571.1:g.438813T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.633T>G MANE Select | ENSP00000416360.1:p.His211Gln | |
| ENST00000244769.8:c.633T>G | ENSP00000244769.3:p.His211Gln | |
| ENST00000436367.5:c.633T>G | ENSP00000416360.1:p.His211Gln | |
| NM_000332.3:c.633T>G | NP_000323.2:p.His211Gln | |
| NM_001128164.1:c.633T>G | NP_001121636.1:p.His211Gln | |
| NM_001357857.1:c.*46T>G | NP_001344786.1:n.*46T>G | |
| NM_001357857.2:c.*46T>G | NP_001344786.1:n.*46T>G | |
| NM_001128164.2:c.633T>G MANE Select | NP_001121636.1:p.His211Gln | |
| NM_000332.4:c.633T>G | NP_000323.2:p.His211Gln |