gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58292243T>A , CM000663.2:g.58292243T>A | GRCh38 |
| NC_000001.10:g.58757915T>A , CM000663.1:g.58757915T>A | GRCh37 |
| NC_000001.9:g.58530503T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485760.5:n.309+51109A>T | ||
| NM_001379461.1:c.-453+51109A>T | NP_001366390.1:n.-453+51109A>T |