gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73673773T>G , CM000664.2:g.73673773T>G | GRCh38 |
| NC_000002.11:g.73900900T>G , CM000664.1:g.73900900T>G | GRCh37 |
| NC_000002.10:g.73754408T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652439.1:n.795-40T>G | ||
| ENST00000428767.1:n.550-40T>G | ||
| ENST00000450720.5:n.738-40T>G | ||
| NR_003683.2:n.738-40T>G |