Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101235324C>T , CM000677.2:g.101235324C>T | GRCh38 |
| NC_000015.9:g.101775529C>T , CM000677.1:g.101775529C>T | GRCh37 |
| NC_000015.8:g.99593052C>T | NCBI36 |
| NG_031908.1:g.21609G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014918.5:c.574G>A MANE Select | NP_055733.2:p.Glu192Lys |
| ENST00000254190.4:c.574G>A MANE Select | ENSP00000254190.3:p.Glu192Lys |
| NM_014918.4:c.574G>A | NP_055733.2:p.Glu192Lys |
| ENST00000254190.3:c.574G>A | ENSP00000254190.3:p.Glu192Lys |
| XM_011521364.1:c.574G>A | XP_011519666.1:p.Glu192Lys |
| XM_011521364.2:c.574G>A | XP_011519666.1:p.Glu192Lys |
| XM_011521365.1:c.-70G>A | XP_011519667.1:n.-70G>A |