Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42107659G>T , CM000679.2:g.42107659G>T | GRCh38 |
| NC_000017.10:g.40259677G>T , CM000679.1:g.40259677G>T | GRCh37 |
| NC_000017.9:g.37513203G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251642.8:c.942C>A MANE Select | ENSP00000251642.3:p.His314Gln | |
| ENST00000251642.7:c.942C>A | ENSP00000251642.3:p.His314Gln | |
| ENST00000586522.5:n.1124C>A | ||
| ENST00000590637.1:n.190C>A | ||
| NM_024119.2:c.942C>A | NP_077024.2:p.His314Gln | |
| XM_011525224.1:c.942C>A | XP_011523526.1:p.His314Gln | |
| XR_934548.1:n.1098C>A | ||
| XM_017025059.1:c.942C>A | XP_016880548.1:p.His314Gln | |
| XR_001752623.1:n.1098C>A | ||
| XR_001752624.1:n.1098C>A | ||
| XR_002958067.1:n.1153C>A | ||
| NM_024119.3:c.942C>A MANE Select | NP_077024.2:p.His314Gln |