gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017136 (EAS)
Genomes Max Group AF
0.00004774 (AFR)
Exomes Max Group AF
0.00019332 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127846C>T , CM000684.2:g.42127846C>T | GRCh38 |
| NC_000022.10:g.42523848C>T , CM000684.1:g.42523848C>T | GRCh37 |
| NC_000022.9:g.40853792C>T | NCBI36 |
| NG_008376.3:g.7146G>A | |
| NG_008376.4:g.7965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.779G>A | ENSP00000353241.6:n.779G>A | |
| ENST00000645361.2:c.981G>A MANE Select | ENSP00000496150.1:p.Val327= | |
| ENST00000359033.4:c.828G>A | ENSP00000351927.4:p.Val276= | |
| ENST00000360124.9:c.599G>A | ENSP00000353241.5:n.599G>A | |
| ENST00000360608.9:c.981G>A | ENSP00000353820.5:p.Val327= | |
| ENST00000389970.7:c.915G>A | ENSP00000374620.4:p.Val305= | |
| ENST00000488442.1:n.1705G>A | ||
| NM_000106.5:c.981G>A | NP_000097.3:p.Val327= | |
| NM_001025161.2:c.828G>A | NP_001020332.2:p.Val276= | |
| XM_011529966.1:c.981G>A | XP_011528268.1:p.Val327= | |
| XM_011529967.1:c.981G>A | XP_011528269.1:p.Val327= | |
| XM_011529968.1:c.981G>A | XP_011528270.1:p.Val327= | |
| XM_011529969.1:c.837G>A | XP_011528271.1:p.Val279= | |
| XM_011529970.1:c.828G>A | XP_011528272.1:p.Val276= | |
| XM_011529971.1:c.837G>A | XP_011528273.1:p.Val279= | |
| XM_011529972.1:c.844-212G>A | XP_011528274.1:n.844-212G>A | |
| NM_000106.6:c.981G>A MANE Select | NP_000097.3:p.Val327= | |
| NM_001025161.3:c.828G>A | NP_001020332.2:p.Val276= |