Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8120718T>C , CM000679.2:g.8120718T>C | GRCh38 |
| NC_000017.10:g.8024036T>C , CM000679.1:g.8024036T>C | GRCh37 |
| NC_000017.9:g.7964761T>C | NCBI36 |
| NG_015807.1:g.3199A>G | |
| NG_015816.1:g.8375A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.*853A>G MANE Select | ENSP00000446205.2:n.*853A>G | |
| ENST00000541682.6:c.1546A>G | ENSP00000446205.2:n.1546A>G | |
| NM_001165967.1:c.*853A>G | NP_001159439.1:n.*853A>G | |
| NM_032580.3:c.*853A>G | NP_115969.2:n.*853A>G | |
| XM_011524038.1:c.*853A>G | XP_011522340.1:n.*853A>G | |
| XR_934203.1:n.69+904T>C | ||
| XM_017025232.1:c.*853A>G | XP_016880721.1:n.*853A>G | |
| XM_024451007.1:c.*853A>G | XP_024306775.1:n.*853A>G | |
| NM_001165967.2:c.*853A>G MANE Select | NP_001159439.1:n.*853A>G | |
| NM_032580.4:c.*853A>G | NP_115969.2:n.*853A>G |