Linked Data
dbSNP Id:
rs1135823
ExAC:
22:42525176 C / A
gnomAD v2:
22-42525176-C-A
gnomAD v3:
22-42129174-C-A
gnomAD v4:
22-42129174-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129174C>A , CM000684.2:g.42129174C>A | GRCh38 |
| NC_000022.10:g.42525176C>A , CM000684.1:g.42525176C>A | GRCh37 |
| NC_000022.9:g.40855120C>A | NCBI36 |
| NG_008376.3:g.5818G>T | |
| NG_008376.4:g.6637G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-230G>T | ENSP00000353241.6:n.353-230G>T | |
| ENST00000645361.2:c.364G>T MANE Select | ENSP00000496150.1:p.Ala122Ser | |
| ENST00000359033.4:c.353-230G>T | ENSP00000351927.4:n.353-230G>T | |
| ENST00000360124.9:c.173-230G>T | ENSP00000353241.5:n.173-230G>T | |
| ENST00000360608.9:c.364G>T | ENSP00000353820.5:p.Ala122Ser | |
| ENST00000389970.7:c.298G>T | ENSP00000374620.4:p.Ala100Ser | |
| ENST00000488442.1:n.1088G>T | ||
| NM_000106.5:c.364G>T | NP_000097.3:p.Ala122Ser | |
| NM_001025161.2:c.353-230G>T | NP_001020332.2:n.353-230G>T | |
| XM_011529966.1:c.364G>T | XP_011528268.1:p.Ala122Ser | |
| XM_011529967.1:c.364G>T | XP_011528269.1:p.Ala122Ser | |
| XM_011529968.1:c.364G>T | XP_011528270.1:p.Ala122Ser | |
| XM_011529969.1:c.221G>T | XP_011528271.1:p.Gly74Val | |
| XM_011529970.1:c.353-230G>T | XP_011528272.1:n.353-230G>T | |
| XM_011529971.1:c.221G>T | XP_011528273.1:p.Gly74Val | |
| XM_011529972.1:c.364G>T | XP_011528274.1:p.Ala122Ser | |
| NM_000106.6:c.364G>T MANE Select | NP_000097.3:p.Ala122Ser | |
| NM_001025161.3:c.353-230G>T | NP_001020332.2:n.353-230G>T |