Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102207267A>C , CM000670.2:g.102207267A>C | GRCh38 |
| NC_000008.10:g.103219495A>C , CM000670.1:g.103219495A>C | GRCh37 |
| NC_000008.9:g.103288671A>C | NCBI36 |
| NG_016617.1:g.36852T>G , LRG_788:g.36852T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015713.5:c.*866T>G MANE Select | NP_056528.2:n.*866T>G |
| ENST00000251810.8:c.*866T>G MANE Select | ENSP00000251810.3:n.*866T>G |
| NM_001172477.1:c.*866T>G , LRG_788t1:c.*866T>G | NP_001165948.1:n.*866T>G |
| NM_001172478.1:c.*866T>G | NP_001165949.1:n.*866T>G |
| NM_001172478.2:c.*866T>G | NP_001165949.1:n.*866T>G |
| NM_015713.4:c.*866T>G , LRG_788t2:c.*866T>G | NP_056528.2:n.*866T>G |
| ENST00000251810.7:c.*866T>G | ENSP00000251810.3:n.*866T>G |
| ENST00000621845.1:c.*807+59T>G | ENSP00000484318.1:n.*807+59T>G |