gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10494798C>T , CM000670.2:g.10494798C>T | GRCh38 |
| NC_000008.10:g.10352308C>T , CM000670.1:g.10352308C>T | GRCh37 |
| NC_000008.9:g.10389718C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523024.2:c.343+2914G>A | ENSP00000518528.1:n.343+2914G>A | |
| ENST00000521149.2:n.203+3930G>A | ||
| ENST00000523024.1:n.609+2914G>A |