Linked Data
ClinVar Variation Id:
295914
dbSNP Id:
rs377063208
ExAC:
1:22217198 G / A
gnomAD v2:
1-22217198-G-A
gnomAD v3:
1-21890705-G-A
gnomAD v4:
1-21890705-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21890705G>A , CM000663.2:g.21890705G>A | GRCh38 |
| NC_000001.10:g.22217198G>A , CM000663.1:g.22217198G>A | GRCh37 |
| NC_000001.9:g.22089785G>A | NCBI36 |
| NG_016740.1:g.51553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.245-11C>T MANE Select | ENSP00000363827.3:n.245-11C>T | |
| ENST00000374695.7:c.245-11C>T | ENSP00000363827.3:n.245-11C>T | |
| ENST00000412328.5:n.182-564C>T | ||
| ENST00000439717.2:n.143-11C>T | ||
| NM_001291860.1:c.245-11C>T | NP_001278789.1:n.245-11C>T | |
| NM_005529.6:c.245-11C>T | NP_005520.4:n.245-11C>T | |
| XM_006710594.2:c.245-11C>T | XP_006710657.1:n.245-11C>T | |
| XM_006710595.2:c.245-11C>T | XP_006710658.1:n.245-11C>T | |
| XM_006710596.2:c.245-11C>T | XP_006710659.1:n.245-11C>T | |
| XM_006710597.2:c.245-11C>T | XP_006710660.1:n.245-11C>T | |
| XM_011541317.1:c.245-11C>T | XP_011539619.1:n.245-11C>T | |
| XM_011541318.1:c.245-11C>T | XP_011539620.1:n.245-11C>T | |
| XM_011541319.1:c.245-11C>T | XP_011539621.1:n.245-11C>T | |
| XM_011541320.1:c.245-11C>T | XP_011539622.1:n.245-11C>T | |
| XM_011541321.1:c.245-11C>T | XP_011539623.1:n.245-11C>T | |
| XM_011541322.1:c.245-11C>T | XP_011539624.1:n.245-11C>T | |
| XM_011541318.2:c.245-11C>T | XP_011539620.1:n.245-11C>T | |
| XM_017001120.1:c.386-11C>T | XP_016856609.1:n.386-11C>T | |
| XM_017001121.1:c.386-11C>T | XP_016856610.1:n.386-11C>T | |
| XM_017001122.1:c.386-11C>T | XP_016856611.1:n.386-11C>T | |
| NM_005529.7:c.245-11C>T MANE Select | NP_005520.4:n.245-11C>T | |
| NM_001291860.2:c.245-11C>T | NP_001278789.1:n.245-11C>T |