Linked Data
dbSNP Id:
rs765757568
ExAC:
22:42524240 A / C
gnomAD v2:
22-42524240-A-C
gnomAD v4:
22-42128238-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128238A>C , CM000684.2:g.42128238A>C | GRCh38 |
| NC_000022.10:g.42524240A>C , CM000684.1:g.42524240A>C | GRCh37 |
| NC_000022.9:g.40854184A>C | NCBI36 |
| NG_008376.3:g.6754T>G | |
| NG_008376.4:g.7573T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.626T>G | ENSP00000353241.6:p.Met209Arg | |
| ENST00000645361.2:c.779T>G MANE Select | ENSP00000496150.1:p.Met260Arg | |
| ENST00000359033.4:c.626T>G | ENSP00000351927.4:p.Met209Arg | |
| ENST00000360124.9:c.446T>G | ENSP00000353241.5:p.Met149Arg | |
| ENST00000360608.9:c.779T>G | ENSP00000353820.5:p.Met260Arg | |
| ENST00000389970.7:c.713T>G | ENSP00000374620.4:p.Met238Arg | |
| ENST00000488442.1:n.1503T>G | ||
| NM_000106.5:c.779T>G | NP_000097.3:p.Met260Arg | |
| NM_001025161.2:c.626T>G | NP_001020332.2:p.Met209Arg | |
| XM_011529966.1:c.779T>G | XP_011528268.1:p.Met260Arg | |
| XM_011529967.1:c.779T>G | XP_011528269.1:p.Met260Arg | |
| XM_011529968.1:c.779T>G | XP_011528270.1:p.Met260Arg | |
| XM_011529969.1:c.635T>G | XP_011528271.1:p.Met212Arg | |
| XM_011529970.1:c.626T>G | XP_011528272.1:p.Met209Arg | |
| XM_011529971.1:c.635T>G | XP_011528273.1:p.Met212Arg | |
| XM_011529972.1:c.779T>G | XP_011528274.1:p.Met260Arg | |
| NM_000106.6:c.779T>G MANE Select | NP_000097.3:p.Met260Arg | |
| NM_001025161.3:c.626T>G | NP_001020332.2:p.Met209Arg |