Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16133226C>A , CM000663.2:g.16133226C>A | GRCh38 |
| NC_000001.10:g.16459721C>A , CM000663.1:g.16459721C>A | GRCh37 |
| NC_000001.9:g.16332308C>A | NCBI36 |
| NG_021396.1:g.27862G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004431.5:c.2007G>T MANE Select | NP_004422.2:p.Gln669His |
| ENST00000358432.8:c.2007G>T MANE Select | ENSP00000351209.5:p.Gln669His |
| NM_001329090.1:c.1845G>T | NP_001316019.1:p.Gln615His |
| NM_001329090.2:c.1845G>T | NP_001316019.1:p.Gln615His |
| NM_004431.3:c.2007G>T | NP_004422.2:p.Gln669His |
| NM_004431.4:c.2007G>T | NP_004422.2:p.Gln669His |
| ENST00000358432.7:c.2007G>T | ENSP00000351209.5:p.Gln669His |
| ENST00000462805.1:n.225G>T |