dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00079768 (AFR)
Genomes Max Group AF
0.00070529 (AFR)
Exomes Max Group AF
0.0007534 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127477G>A , CM000684.2:g.42127477G>A | GRCh38 |
| NC_000022.10:g.42523479G>A , CM000684.1:g.42523479G>A | GRCh37 |
| NC_000022.9:g.40853423G>A | NCBI36 |
| NG_008376.3:g.7515C>T | |
| NG_008376.4:g.8334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.941C>T | ENSP00000353241.6:n.941C>T | |
| ENST00000645361.2:c.1143C>T MANE Select | ENSP00000496150.1:p.Asp381= | |
| ENST00000359033.4:c.990C>T | ENSP00000351927.4:p.Asp330= | |
| ENST00000360124.9:c.761C>T | ENSP00000353241.5:n.761C>T | |
| ENST00000360608.9:c.1143C>T | ENSP00000353820.5:p.Asp381= | |
| ENST00000389970.7:c.1134C>T | ENSP00000374620.4:p.Asp378= | |
| ENST00000488442.1:n.1867C>T | ||
| NM_000106.5:c.1143C>T | NP_000097.3:p.Asp381= | |
| NM_001025161.2:c.990C>T | NP_001020332.2:p.Asp330= | |
| XM_011529966.1:c.1143C>T | XP_011528268.1:p.Asp381= | |
| XM_011529967.1:c.1143C>T | XP_011528269.1:p.Asp381= | |
| XM_011529968.1:c.1143C>T | XP_011528270.1:p.Asp381= | |
| XM_011529969.1:c.999C>T | XP_011528271.1:p.Asp333= | |
| XM_011529970.1:c.990C>T | XP_011528272.1:p.Asp330= | |
| XM_011529971.1:c.999C>T | XP_011528273.1:p.Asp333= | |
| NM_000106.6:c.1143C>T MANE Select | NP_000097.3:p.Asp381= | |
| NM_001025161.3:c.990C>T | NP_001020332.2:p.Asp330= |