Linked Data
ClinVar Variation Id:
242771
dbSNP Id:
rs16947
gnomAD v3:
22-42127941-G-A
gnomAD v4:
22-42127941-G-A
MyVariant Identifiers:
chr22:g.42127941G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127941G>A , CM000684.2:g.42127941G>A | GRCh38 |
| NG_008376.3:g.7051C>T | |
| NG_008376.4:g.7870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.691-7C>T | ENSP00000353241.6:n.691-7C>T | |
| ENST00000645361.2:c.886C>T MANE Select | ENSP00000496150.1:p.Arg296Cys | |
| ENST00000359033.4:c.733C>T | ENSP00000351927.4:p.Arg245Cys | |
| ENST00000360124.9:c.511-7C>T | ENSP00000353241.5:n.511-7C>T | |
| ENST00000360608.9:c.886C>T | ENSP00000353820.5:p.Arg296Cys | |
| ENST00000389970.7:c.820C>T | ENSP00000374620.4:p.Arg274Cys | |
| ENST00000488442.1:n.1610C>T | ||
| NM_000106.5:c.886C>T | NP_000097.3:p.Arg296Cys | |
| NM_001025161.2:c.733C>T | NP_001020332.2:p.Arg245Cys | |
| XM_011529966.1:c.886C>T | XP_011528268.1:p.Arg296Cys | |
| XM_011529967.1:c.886C>T | XP_011528269.1:p.Arg296Cys | |
| XM_011529968.1:c.886C>T | XP_011528270.1:p.Arg296Cys | |
| XM_011529969.1:c.742C>T | XP_011528271.1:p.Arg248Cys | |
| XM_011529970.1:c.733C>T | XP_011528272.1:p.Arg245Cys | |
| XM_011529971.1:c.742C>T | XP_011528273.1:p.Arg248Cys | |
| XM_011529972.1:c.843+233C>T | XP_011528274.1:n.843+233C>T | |
| NM_000106.6:c.886C>T MANE Select | NP_000097.3:p.Arg296Cys | |
| NM_001025161.3:c.733C>T | NP_001020332.2:p.Arg245Cys |