Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58060708A>C , CM000663.2:g.58060708A>C | GRCh38 |
| NC_000001.10:g.58526380A>C , CM000663.1:g.58526380A>C | GRCh37 |
| NC_000001.9:g.58298968A>C | NCBI36 |
| NG_046914.2:g.194840T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485760.5:n.387+89803T>G | ||
| NM_021080.3:c.-374-176546T>G | NP_066566.3:n.-374-176546T>G | |
| NM_001353980.1:c.-450-89843T>G | NP_001340909.1:n.-450-89843T>G | |
| NM_021080.4:c.-374-176546T>G | NP_066566.3:n.-374-176546T>G | |
| NM_021080.5:c.-374-176546T>G | NP_066566.3:n.-374-176546T>G | |
| NM_001353980.2:c.-450-89843T>G | NP_001340909.1:n.-450-89843T>G | |
| NM_001379461.1:c.-375+89803T>G | NP_001366390.1:n.-375+89803T>G | |
| NM_001379462.1:c.-450-89843T>G | NP_001366391.1:n.-450-89843T>G |