gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93215803 (EAS)
Genomes Max Group AF
0.93215803 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8054236A>G , CM000672.2:g.8054236A>G | GRCh38 |
| NC_000010.10:g.8096199A>G , CM000672.1:g.8096199A>G | GRCh37 |
| NC_000010.9:g.8136205A>G | NCBI36 |
| NG_015859.1:g.4533A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481743.2:c.-370+458A>G | ENSP00000493486.1:n.-370+458A>G | |
| ENST00000643001.1:c.-369-1051A>G | ENSP00000494284.1:n.-369-1051A>G | |
| ENST00000481743.1:n.175+458A>G | ||
| XM_005252442.2:c.-370+458A>G | XP_005252499.1:n.-370+458A>G | |
| XM_005252443.3:c.-369-1051A>G | XP_005252500.1:n.-369-1051A>G | |
| XM_005252443.5:c.-369-1051A>G | XP_005252500.1:n.-369-1051A>G | |
| XR_001747358.1:n.1121T>C |