Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16327675C>A , CM000668.2:g.16327675C>A | GRCh38 |
| NC_000006.11:g.16327906C>A , CM000668.1:g.16327906C>A | GRCh37 |
| NC_000006.10:g.16435885C>A | NCBI36 |
| NG_011571.1:g.438816G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128164.2:c.636G>T MANE Select | NP_001121636.1:p.Gln212His |
| ENST00000436367.6:c.636G>T MANE Select | ENSP00000416360.1:p.Gln212His |
| NM_000332.3:c.636G>T | NP_000323.2:p.Gln212His |
| NM_000332.4:c.636G>T | NP_000323.2:p.Gln212His |
| NM_001128164.1:c.636G>T | NP_001121636.1:p.Gln212His |
| NM_001357857.1:c.*49G>T | NP_001344786.1:n.*49G>T |
| NM_001357857.2:c.*49G>T | NP_001344786.1:n.*49G>T |
| ENST00000244769.8:c.636G>T | ENSP00000244769.3:p.Gln212His |
| ENST00000436367.5:c.636G>T | ENSP00000416360.1:p.Gln212His |