dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00429398 (AFR)
Genomes Max Group AF
0.00395321 (AFR)
Exomes Max Group AF
0.00436386 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127084C>T , CM000684.2:g.42127084C>T | GRCh38 |
| NC_000022.10:g.42523086C>T , CM000684.1:g.42523086C>T | GRCh37 |
| NC_000022.9:g.40853030C>T | NCBI36 |
| NG_008376.3:g.7908G>A | |
| NG_008376.4:g.8727G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.972-92G>A | ENSP00000353241.6:n.972-92G>A | |
| ENST00000645361.2:c.1174-92G>A MANE Select | ENSP00000496150.1:n.1174-92G>A | |
| ENST00000359033.4:c.1021-92G>A | ENSP00000351927.4:n.1021-92G>A | |
| ENST00000360124.9:c.792-92G>A | ENSP00000353241.5:n.792-92G>A | |
| ENST00000360608.9:c.1174-92G>A | ENSP00000353820.5:n.1174-92G>A | |
| ENST00000389970.7:c.1165-92G>A | ENSP00000374620.4:n.1165-92G>A | |
| ENST00000488442.1:n.1898-92G>A | ||
| NM_000106.5:c.1174-92G>A | NP_000097.3:n.1174-92G>A | |
| NM_001025161.2:c.1021-92G>A | NP_001020332.2:n.1021-92G>A | |
| XM_011529966.1:c.1174-92G>A | XP_011528268.1:n.1174-92G>A | |
| XM_011529967.1:c.1174-92G>A | XP_011528269.1:n.1174-92G>A | |
| XM_011529968.1:c.1174-92G>A | XP_011528270.1:n.1174-92G>A | |
| XM_011529969.1:c.1030-92G>A | XP_011528271.1:n.1030-92G>A | |
| XM_011529970.1:c.1021-92G>A | XP_011528272.1:n.1021-92G>A | |
| XM_011529971.1:c.1030-92G>A | XP_011528273.1:n.1030-92G>A | |
| NM_000106.6:c.1174-92G>A MANE Select | NP_000097.3:n.1174-92G>A | |
| NM_001025161.3:c.1021-92G>A | NP_001020332.2:n.1021-92G>A |