gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40850474A>G , CM000681.2:g.40850474A>G | GRCh38 |
| NC_000019.9:g.41356379A>G , CM000681.1:g.41356379A>G | GRCh37 |
| NC_000019.8:g.46048219A>G | NCBI36 |
| NG_008377.1:g.4974T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000601627.1:c.120-41517A>G | ||
| ENST00000610301.1:c.91-138T>C | ENSP00000477899.1:n.91-138T>C |