Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8120721C>T , CM000679.2:g.8120721C>T | GRCh38 |
| NC_000017.10:g.8024039C>T , CM000679.1:g.8024039C>T | GRCh37 |
| NC_000017.9:g.7964764C>T | NCBI36 |
| NG_015807.1:g.3196G>A | |
| NG_015816.1:g.8372G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.*850G>A MANE Select | ENSP00000446205.2:n.*850G>A | |
| ENST00000541682.6:c.1543G>A | ENSP00000446205.2:n.1543G>A | |
| NM_001165967.1:c.*850G>A | NP_001159439.1:n.*850G>A | |
| NM_032580.3:c.*850G>A | NP_115969.2:n.*850G>A | |
| XM_011524038.1:c.*850G>A | XP_011522340.1:n.*850G>A | |
| XR_934203.1:n.69+907C>T | ||
| XM_017025232.1:c.*850G>A | XP_016880721.1:n.*850G>A | |
| XM_024451007.1:c.*850G>A | XP_024306775.1:n.*850G>A | |
| NM_001165967.2:c.*850G>A MANE Select | NP_001159439.1:n.*850G>A | |
| NM_032580.4:c.*850G>A | NP_115969.2:n.*850G>A |