Linked Data
ClinVar Variation Id:
295782
dbSNP Id:
rs377601366
ExAC:
1:22173995 C / A
gnomAD v2:
1-22173995-C-A
gnomAD v3:
1-21847502-C-A
gnomAD v4:
1-21847502-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21847502C>A , CM000663.2:g.21847502C>A | GRCh38 |
| NC_000001.10:g.22173995C>A , CM000663.1:g.22173995C>A | GRCh37 |
| NC_000001.9:g.22046582C>A | NCBI36 |
| NG_016740.1:g.94756G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.8026-10G>T MANE Select | ENSP00000363827.3:n.8026-10G>T | |
| ENST00000374695.7:c.8026-10G>T | ENSP00000363827.3:n.8026-10G>T | |
| ENST00000453796.1:n.271-10G>T | ||
| NM_001291860.1:c.8029-10G>T | NP_001278789.1:n.8029-10G>T | |
| NM_005529.6:c.8026-10G>T | NP_005520.4:n.8026-10G>T | |
| XM_006710594.2:c.8572-10G>T | XP_006710657.1:n.8572-10G>T | |
| XM_006710595.2:c.8524-10G>T | XP_006710658.1:n.8524-10G>T | |
| XM_006710596.2:c.8503-10G>T | XP_006710659.1:n.8503-10G>T | |
| XM_006710597.2:c.8026-10G>T | XP_006710660.1:n.8026-10G>T | |
| XM_011541317.1:c.8575-10G>T | XP_011539619.1:n.8575-10G>T | |
| XM_011541318.1:c.8575-10G>T | XP_011539620.1:n.8575-10G>T | |
| XM_011541319.1:c.8575-10G>T | XP_011539621.1:n.8575-10G>T | |
| XM_011541320.1:c.8296-10G>T | XP_011539622.1:n.8296-10G>T | |
| XM_011541321.1:c.8080-10G>T | XP_011539623.1:n.8080-10G>T | |
| XM_011541318.2:c.8575-10G>T | XP_011539620.1:n.8575-10G>T | |
| XM_017001120.1:c.8221-10G>T | XP_016856609.1:n.8221-10G>T | |
| XM_017001121.1:c.8170-10G>T | XP_016856610.1:n.8170-10G>T | |
| XM_017001122.1:c.8167-10G>T | XP_016856611.1:n.8167-10G>T | |
| NM_005529.7:c.8026-10G>T MANE Select | NP_005520.4:n.8026-10G>T | |
| NM_001291860.2:c.8029-10G>T | NP_001278789.1:n.8029-10G>T |