Linked Data
ClinVar Variation Id:
295755
dbSNP Id:
rs369434104
ExAC:
1:22166053 C / T
gnomAD v2:
1-22166053-C-T
gnomAD v3:
1-21839560-C-T
gnomAD v4:
1-21839560-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21839560C>T , CM000663.2:g.21839560C>T | GRCh38 |
| NC_000001.10:g.22166053C>T , CM000663.1:g.22166053C>T | GRCh37 |
| NC_000001.9:g.22038640C>T | NCBI36 |
| NG_016740.1:g.102698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.9710-10G>A MANE Select | ENSP00000363827.3:n.9710-10G>A | |
| ENST00000374695.7:c.9710-10G>A | ENSP00000363827.3:n.9710-10G>A | |
| NM_001291860.1:c.9713-10G>A | NP_001278789.1:n.9713-10G>A | |
| NM_005529.6:c.9710-10G>A | NP_005520.4:n.9710-10G>A | |
| XM_006710594.2:c.10256-10G>A | XP_006710657.1:n.10256-10G>A | |
| XM_006710595.2:c.10208-10G>A | XP_006710658.1:n.10208-10G>A | |
| XM_006710596.2:c.10187-10G>A | XP_006710659.1:n.10187-10G>A | |
| XM_006710597.2:c.9710-10G>A | XP_006710660.1:n.9710-10G>A | |
| XM_011541317.1:c.10259-10G>A | XP_011539619.1:n.10259-10G>A | |
| XM_011541318.1:c.10259-10G>A | XP_011539620.1:n.10259-10G>A | |
| XM_011541319.1:c.10259-10G>A | XP_011539621.1:n.10259-10G>A | |
| XM_011541320.1:c.9980-10G>A | XP_011539622.1:n.9980-10G>A | |
| XM_011541321.1:c.9764-10G>A | XP_011539623.1:n.9764-10G>A | |
| XM_011541318.2:c.10259-10G>A | XP_011539620.1:n.10259-10G>A | |
| XM_017001120.1:c.9905-10G>A | XP_016856609.1:n.9905-10G>A | |
| XM_017001121.1:c.9854-10G>A | XP_016856610.1:n.9854-10G>A | |
| XM_017001122.1:c.9851-10G>A | XP_016856611.1:n.9851-10G>A | |
| NM_005529.7:c.9710-10G>A MANE Select | NP_005520.4:n.9710-10G>A | |
| NM_001291860.2:c.9713-10G>A | NP_001278789.1:n.9713-10G>A |