Linked Data
dbSNP Id:
rs749023275
ExAC:
22:42524176 C / T
gnomAD v2:
22-42524176-C-T
gnomAD v3:
22-42128174-C-T
gnomAD v4:
22-42128174-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128174C>T , CM000684.2:g.42128174C>T | GRCh38 |
| NC_000022.10:g.42524176C>T , CM000684.1:g.42524176C>T | GRCh37 |
| NC_000022.9:g.40854120C>T | NCBI36 |
| NG_008376.3:g.6818G>A | |
| NG_008376.4:g.7637G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.690G>A | ENSP00000353241.6:p.Lys230= | |
| ENST00000645361.2:c.843G>A MANE Select | ENSP00000496150.1:p.Lys281= | |
| ENST00000359033.4:c.690G>A | ENSP00000351927.4:p.Lys230= | |
| ENST00000360124.9:c.510G>A | ENSP00000353241.5:p.Lys170= | |
| ENST00000360608.9:c.843G>A | ENSP00000353820.5:p.Lys281= | |
| ENST00000389970.7:c.777G>A | ENSP00000374620.4:p.Lys259= | |
| ENST00000488442.1:n.1567G>A | ||
| NM_000106.5:c.843G>A | NP_000097.3:p.Lys281= | |
| NM_001025161.2:c.690G>A | NP_001020332.2:p.Lys230= | |
| XM_011529966.1:c.843G>A | XP_011528268.1:p.Lys281= | |
| XM_011529967.1:c.843G>A | XP_011528269.1:p.Lys281= | |
| XM_011529968.1:c.843G>A | XP_011528270.1:p.Lys281= | |
| XM_011529969.1:c.699G>A | XP_011528271.1:p.Lys233= | |
| XM_011529970.1:c.690G>A | XP_011528272.1:p.Lys230= | |
| XM_011529971.1:c.699G>A | XP_011528273.1:p.Lys233= | |
| XM_011529972.1:c.843G>A | XP_011528274.1:p.Lys281= | |
| NM_000106.6:c.843G>A MANE Select | NP_000097.3:p.Lys281= | |
| NM_001025161.3:c.690G>A | NP_001020332.2:p.Lys230= |