Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52544536C>T , CM000674.2:g.52544536C>T | GRCh38 |
| NC_000012.11:g.52938320C>T , CM000674.1:g.52938320C>T | GRCh37 |
| NC_000012.10:g.51224587C>T | NCBI36 |
| NG_012426.1:g.13612G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_033448.3:c.1568G>A MANE Select | NP_258259.1:p.Arg523Gln |
| ENST00000267119.6:c.1568G>A MANE Select | ENSP00000267119.5:p.Arg523Gln |
| NM_033448.2:c.1568G>A | NP_258259.1:p.Arg523Gln |
| ENST00000267119.5:c.1568G>A | ENSP00000267119.5:p.Arg523Gln |
| XM_017018749.1:c.1322G>A | XP_016874238.1:p.Arg441Gln |