Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16327702C>G , CM000668.2:g.16327702C>G | GRCh38 |
| NC_000006.11:g.16327933C>G , CM000668.1:g.16327933C>G | GRCh37 |
| NC_000006.10:g.16435912C>G | NCBI36 |
| NG_011571.1:g.438789G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001128164.2:c.609G>C MANE Select | NP_001121636.1:p.Gln203His |
| ENST00000436367.6:c.609G>C MANE Select | ENSP00000416360.1:p.Gln203His |
| NM_000332.3:c.609G>C | NP_000323.2:p.Gln203His |
| NM_000332.4:c.609G>C | NP_000323.2:p.Gln203His |
| NM_001128164.1:c.609G>C | NP_001121636.1:p.Gln203His |
| NM_001357857.1:c.*22G>C | NP_001344786.1:n.*22G>C |
| NM_001357857.2:c.*22G>C | NP_001344786.1:n.*22G>C |
| ENST00000244769.8:c.609G>C | ENSP00000244769.3:p.Gln203His |
| ENST00000436367.5:c.609G>C | ENSP00000416360.1:p.Gln203His |