Linked Data
ClinVar Variation Id:
295769
dbSNP Id:
rs139605410
ExAC:
1:22169427 G / A
gnomAD v2:
1-22169427-G-A
gnomAD v3:
1-21842934-G-A
gnomAD v4:
1-21842934-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21842934G>A , CM000663.2:g.21842934G>A | GRCh38 |
| NC_000001.10:g.22169427G>A , CM000663.1:g.22169427G>A | GRCh37 |
| NC_000001.9:g.22042014G>A | NCBI36 |
| NG_016740.1:g.99324C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8759-13C>T MANE Select | ENSP00000363827.3:n.8759-13C>T | |
| ENST00000374695.7:c.8759-13C>T | ENSP00000363827.3:n.8759-13C>T | |
| NM_001291860.1:c.8762-13C>T | NP_001278789.1:n.8762-13C>T | |
| NM_005529.6:c.8759-13C>T | NP_005520.4:n.8759-13C>T | |
| XM_006710594.2:c.9305-13C>T | XP_006710657.1:n.9305-13C>T | |
| XM_006710595.2:c.9257-13C>T | XP_006710658.1:n.9257-13C>T | |
| XM_006710596.2:c.9236-13C>T | XP_006710659.1:n.9236-13C>T | |
| XM_006710597.2:c.8759-13C>T | XP_006710660.1:n.8759-13C>T | |
| XM_011541317.1:c.9308-13C>T | XP_011539619.1:n.9308-13C>T | |
| XM_011541318.1:c.9308-13C>T | XP_011539620.1:n.9308-13C>T | |
| XM_011541319.1:c.9308-13C>T | XP_011539621.1:n.9308-13C>T | |
| XM_011541320.1:c.9029-13C>T | XP_011539622.1:n.9029-13C>T | |
| XM_011541321.1:c.8813-13C>T | XP_011539623.1:n.8813-13C>T | |
| XM_011541318.2:c.9308-13C>T | XP_011539620.1:n.9308-13C>T | |
| XM_017001120.1:c.8954-13C>T | XP_016856609.1:n.8954-13C>T | |
| XM_017001121.1:c.8903-13C>T | XP_016856610.1:n.8903-13C>T | |
| XM_017001122.1:c.8900-13C>T | XP_016856611.1:n.8900-13C>T | |
| NM_005529.7:c.8759-13C>T MANE Select | NP_005520.4:n.8759-13C>T | |
| NM_001291860.2:c.8762-13C>T | NP_001278789.1:n.8762-13C>T |