Linked Data
dbSNP Id:
rs924107404
gnomAD v2:
1-22225805-G-C
gnomAD v3:
1-21899312-G-C
gnomAD v4:
1-21899312-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21899312G>C , CM000663.2:g.21899312G>C | GRCh38 |
| NC_000001.10:g.22225805G>C , CM000663.1:g.22225805G>C | GRCh37 |
| NC_000001.9:g.22098392G>C | NCBI36 |
| NG_016740.1:g.42946C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374695.8:c.64-3002C>G MANE Select | ENSP00000363827.3:n.64-3002C>G | |
| ENST00000374695.7:c.64-3002C>G | ENSP00000363827.3:n.64-3002C>G | |
| NM_001291860.1:c.64-3002C>G | NP_001278789.1:n.64-3002C>G | |
| NM_005529.6:c.64-3002C>G | NP_005520.4:n.64-3002C>G | |
| XM_006710594.2:c.64-3002C>G | XP_006710657.1:n.64-3002C>G | |
| XM_006710595.2:c.64-3002C>G | XP_006710658.1:n.64-3002C>G | |
| XM_006710596.2:c.64-3002C>G | XP_006710659.1:n.64-3002C>G | |
| XM_006710597.2:c.64-3002C>G | XP_006710660.1:n.64-3002C>G | |
| XM_011541317.1:c.64-3002C>G | XP_011539619.1:n.64-3002C>G | |
| XM_011541318.1:c.64-3002C>G | XP_011539620.1:n.64-3002C>G | |
| XM_011541319.1:c.64-3002C>G | XP_011539621.1:n.64-3002C>G | |
| XM_011541320.1:c.64-3002C>G | XP_011539622.1:n.64-3002C>G | |
| XM_011541321.1:c.64-3002C>G | XP_011539623.1:n.64-3002C>G | |
| XM_011541322.1:c.64-3002C>G | XP_011539624.1:n.64-3002C>G | |
| XM_011541318.2:c.64-3002C>G | XP_011539620.1:n.64-3002C>G | |
| NM_005529.7:c.64-3002C>G MANE Select | NP_005520.4:n.64-3002C>G | |
| NM_001291860.2:c.64-3002C>G | NP_001278789.1:n.64-3002C>G |