Linked Data
ClinVar Variation Id:
295794
dbSNP Id:
rs886046031
gnomAD v2:
1-22176847-G-T
gnomAD v3:
1-21850354-G-T
gnomAD v4:
1-21850354-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21850354G>T , CM000663.2:g.21850354G>T | GRCh38 |
| NC_000001.10:g.22176847G>T , CM000663.1:g.22176847G>T | GRCh37 |
| NC_000001.9:g.22049434G>T | NCBI36 |
| NG_016740.1:g.91904C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.7294+9C>A MANE Select | ENSP00000363827.3:n.7294+9C>A | |
| ENST00000374695.7:c.7294+9C>A | ENSP00000363827.3:n.7294+9C>A | |
| NM_001291860.1:c.7297+9C>A | NP_001278789.1:n.7297+9C>A | |
| NM_005529.6:c.7294+9C>A | NP_005520.4:n.7294+9C>A | |
| XM_006710594.2:c.7840+9C>A | XP_006710657.1:n.7840+9C>A | |
| XM_006710595.2:c.7792+9C>A | XP_006710658.1:n.7792+9C>A | |
| XM_006710596.2:c.7771+9C>A | XP_006710659.1:n.7771+9C>A | |
| XM_006710597.2:c.7294+9C>A | XP_006710660.1:n.7294+9C>A | |
| XM_011541317.1:c.7843+9C>A | XP_011539619.1:n.7843+9C>A | |
| XM_011541318.1:c.7843+9C>A | XP_011539620.1:n.7843+9C>A | |
| XM_011541319.1:c.7843+9C>A | XP_011539621.1:n.7843+9C>A | |
| XM_011541320.1:c.7564+9C>A | XP_011539622.1:n.7564+9C>A | |
| XM_011541321.1:c.7348+9C>A | XP_011539623.1:n.7348+9C>A | |
| XM_011541318.2:c.7843+9C>A | XP_011539620.1:n.7843+9C>A | |
| XM_017001120.1:c.7489+9C>A | XP_016856609.1:n.7489+9C>A | |
| XM_017001121.1:c.7438+9C>A | XP_016856610.1:n.7438+9C>A | |
| XM_017001122.1:c.7435+9C>A | XP_016856611.1:n.7435+9C>A | |
| NM_005529.7:c.7294+9C>A MANE Select | NP_005520.4:n.7294+9C>A | |
| NM_001291860.2:c.7297+9C>A | NP_001278789.1:n.7297+9C>A |