gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57768115G>T , CM000674.2:g.57768115G>T | GRCh38 |
| NC_000012.11:g.58161898G>T , CM000674.1:g.58161898G>T | GRCh37 |
| NC_000012.10:g.56448165G>T | NCBI36 |
| NG_007076.1:g.4079C>A | |
| NG_047060.1:g.9017C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.107+765C>A | ||
| ENST00000546609.1:c.107+765C>A |