gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.797079A>G , CM000681.2:g.797079A>G | GRCh38 |
| NC_000019.9:g.797079A>G , CM000681.1:g.797079A>G | GRCh37 |
| NC_000019.8:g.748079A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356948.10:c.-419A>G | ENSP00000349428.4:n.-419A>G | |
| ENST00000635647.1:c.-419A>G | ENSP00000489604.1:n.-419A>G |