Linked Data
dbSNP Id:
rs893430796
gnomAD v2:
22-42525240-T-C
gnomAD v3:
22-42129238-T-C
gnomAD v4:
22-42129238-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129238T>C , CM000684.2:g.42129238T>C | GRCh38 |
| NC_000022.10:g.42525240T>C , CM000684.1:g.42525240T>C | GRCh37 |
| NC_000022.9:g.40855184T>C | NCBI36 |
| NG_008376.3:g.5754A>G | |
| NG_008376.4:g.6573A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-294A>G | ENSP00000353241.6:n.353-294A>G | |
| ENST00000645361.2:c.353-53A>G MANE Select | ENSP00000496150.1:n.353-53A>G | |
| ENST00000359033.4:c.353-294A>G | ENSP00000351927.4:n.353-294A>G | |
| ENST00000360124.9:c.173-294A>G | ENSP00000353241.5:n.173-294A>G | |
| ENST00000360608.9:c.353-53A>G | ENSP00000353820.5:n.353-53A>G | |
| ENST00000389970.7:c.287-53A>G | ENSP00000374620.4:n.287-53A>G | |
| ENST00000488442.1:n.1077-53A>G | ||
| NM_000106.5:c.353-53A>G | NP_000097.3:n.353-53A>G | |
| NM_001025161.2:c.353-294A>G | NP_001020332.2:n.353-294A>G | |
| XM_011529966.1:c.353-53A>G | XP_011528268.1:n.353-53A>G | |
| XM_011529967.1:c.353-53A>G | XP_011528269.1:n.353-53A>G | |
| XM_011529968.1:c.353-53A>G | XP_011528270.1:n.353-53A>G | |
| XM_011529969.1:c.210-53A>G | XP_011528271.1:n.210-53A>G | |
| XM_011529970.1:c.353-294A>G | XP_011528272.1:n.353-294A>G | |
| XM_011529971.1:c.210-53A>G | XP_011528273.1:n.210-53A>G | |
| XM_011529972.1:c.353-53A>G | XP_011528274.1:n.353-53A>G | |
| NM_000106.6:c.353-53A>G MANE Select | NP_000097.3:n.353-53A>G | |
| NM_001025161.3:c.353-294A>G | NP_001020332.2:n.353-294A>G |