gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.57901564A>C , CM000663.2:g.57901564A>C | GRCh38 |
| NC_000001.10:g.58367236A>C , CM000663.1:g.58367236A>C | GRCh37 |
| NC_000001.9:g.58139824A>C | NCBI36 |
| NG_046914.2:g.353984T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485760.5:n.388-17402T>G | ||
| NM_021080.3:c.-374-17402T>G | NP_066566.3:n.-374-17402T>G | |
| NM_001353980.1:c.-374-17402T>G | NP_001340909.1:n.-374-17402T>G | |
| NM_021080.4:c.-374-17402T>G | NP_066566.3:n.-374-17402T>G | |
| NM_021080.5:c.-374-17402T>G | NP_066566.3:n.-374-17402T>G | |
| NM_001353980.2:c.-374-17402T>G | NP_001340909.1:n.-374-17402T>G | |
| NM_001379461.1:c.-374-17402T>G | NP_001366390.1:n.-374-17402T>G | |
| NM_001379462.1:c.-374-17402T>G | NP_001366391.1:n.-374-17402T>G |