Linked Data
dbSNP Id:
rs750817194
ExAC:
22:42524212 T / C
gnomAD v2:
22-42524212-T-C
gnomAD v4:
22-42128210-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128210T>C , CM000684.2:g.42128210T>C | GRCh38 |
| NC_000022.10:g.42524212T>C , CM000684.1:g.42524212T>C | GRCh37 |
| NC_000022.9:g.40854156T>C | NCBI36 |
| NG_008376.3:g.6782A>G | |
| NG_008376.4:g.7601A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.654A>G | ENSP00000353241.6:p.Arg218= | |
| ENST00000645361.2:c.807A>G MANE Select | ENSP00000496150.1:p.Arg269= | |
| ENST00000359033.4:c.654A>G | ENSP00000351927.4:p.Arg218= | |
| ENST00000360124.9:c.474A>G | ENSP00000353241.5:p.Arg158= | |
| ENST00000360608.9:c.807A>G | ENSP00000353820.5:p.Arg269= | |
| ENST00000389970.7:c.741A>G | ENSP00000374620.4:p.Arg247= | |
| ENST00000488442.1:n.1531A>G | ||
| NM_000106.5:c.807A>G | NP_000097.3:p.Arg269= | |
| NM_001025161.2:c.654A>G | NP_001020332.2:p.Arg218= | |
| XM_011529966.1:c.807A>G | XP_011528268.1:p.Arg269= | |
| XM_011529967.1:c.807A>G | XP_011528269.1:p.Arg269= | |
| XM_011529968.1:c.807A>G | XP_011528270.1:p.Arg269= | |
| XM_011529969.1:c.663A>G | XP_011528271.1:p.Arg221= | |
| XM_011529970.1:c.654A>G | XP_011528272.1:p.Arg218= | |
| XM_011529971.1:c.663A>G | XP_011528273.1:p.Arg221= | |
| XM_011529972.1:c.807A>G | XP_011528274.1:p.Arg269= | |
| NM_000106.6:c.807A>G MANE Select | NP_000097.3:p.Arg269= | |
| NM_001025161.3:c.654A>G | NP_001020332.2:p.Arg218= |