Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74716580C>T , CM000678.2:g.74716580C>T | GRCh38 |
| NC_000016.9:g.74750478C>T , CM000678.1:g.74750478C>T | GRCh37 |
| NC_000016.8:g.73307979C>T | NCBI36 |
| NG_017070.1:g.63252G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024306.5:c.806G>A MANE Select | NP_077282.3:p.Arg269His |
| ENST00000219368.8:c.806G>A MANE Select | ENSP00000219368.3:p.Arg269His |
| NM_024306.4:c.806G>A | NP_077282.3:p.Arg269His |
| ENST00000219368.7:c.806G>A | ENSP00000219368.3:p.Arg269His |
| ENST00000562145.1:n.527G>A | |
| ENST00000567683.5:c.*85G>A | ENSP00000455126.1:n.*85G>A |
| XM_011523317.3:c.*1670G>A | XP_011521619.1:n.*1670G>A |
| XM_011523319.1:c.566G>A | XP_011521621.1:p.Arg189His |
| XM_011523319.2:c.566G>A | XP_011521621.1:p.Arg189His |