gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.78588869 (NFE)
Genomes Max Group AF
0.78588869 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149840634A>G , CM000664.2:g.149840634A>G | GRCh38 |
| NC_000002.11:g.150697148A>G , CM000664.1:g.150697148A>G | GRCh37 |
| NC_000002.10:g.150405394A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_110240.1:n.536-7275A>G (MMADHC-DT) | ||
| XR_923462.1:n.757+16817T>C (LINC01931) | ||
| XR_923463.1:n.757+16817T>C (LINC01931) | ||
| NR_145421.1:n.1302+16817T>C (LINC01931) |