dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38809930G>T , CM000666.2:g.38809930G>T | GRCh38 |
| NC_000004.11:g.38811551G>T , CM000666.1:g.38811551G>T | GRCh37 |
| NC_000004.10:g.38487946G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506146.5:c.-352-4737C>A | ENSP00000423725.1:n.-352-4737C>A |