gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2820155A>G , CM000682.2:g.2820155A>G | GRCh38 |
| NC_000020.10:g.2800801A>G , CM000682.1:g.2800801A>G | GRCh37 |
| NC_000020.9:g.2748801A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361033.1:c.*3142A>G | ENSP00000354312.1:n.*3142A>G | |
| NM_001318207.1:c.*3142A>G | NP_001305136.1:n.*3142A>G |