Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.16327636C>G , CM000668.2:g.16327636C>G | GRCh38 |
| NC_000006.11:g.16327867C>G , CM000668.1:g.16327867C>G | GRCh37 |
| NC_000006.10:g.16435846C>G | NCBI36 |
| NG_011571.1:g.438855G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000436367.6:c.675G>C MANE Select | ENSP00000416360.1:p.Gln225His | |
| ENST00000244769.8:c.675G>C | ENSP00000244769.3:p.Gln225His | |
| ENST00000436367.5:c.675G>C | ENSP00000416360.1:p.Gln225His | |
| NM_000332.3:c.675G>C | NP_000323.2:p.Gln225His | |
| NM_001128164.1:c.675G>C | NP_001121636.1:p.Gln225His | |
| NM_001357857.1:c.*88G>C | NP_001344786.1:n.*88G>C | |
| NM_001357857.2:c.*88G>C | NP_001344786.1:n.*88G>C | |
| NM_001128164.2:c.675G>C MANE Select | NP_001121636.1:p.Gln225His | |
| NM_000332.4:c.675G>C | NP_000323.2:p.Gln225His |