Linked Data
ClinVar Variation Id:
1257676
ClinVar RCV Id:
RCV001665639
dbSNP Id:
rs3767137
gnomAD v2:
1-22160723-G-A
gnomAD v3:
1-21834230-G-A
gnomAD v4:
1-21834230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21834230G>A , CM000663.2:g.21834230G>A | GRCh38 |
| NC_000001.10:g.22160723G>A , CM000663.1:g.22160723G>A | GRCh37 |
| NC_000001.9:g.22033310G>A | NCBI36 |
| NG_016740.1:g.108028C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374695.8:c.10721-305C>T MANE Select | ENSP00000363827.3:n.10721-305C>T | |
| ENST00000374695.7:c.10721-305C>T | ENSP00000363827.3:n.10721-305C>T | |
| ENST00000471322.2:n.1076-305C>T | ||
| NM_001291860.1:c.10724-305C>T | NP_001278789.1:n.10724-305C>T | |
| NM_005529.6:c.10721-305C>T | NP_005520.4:n.10721-305C>T | |
| XM_006710594.2:c.11267-305C>T | XP_006710657.1:n.11267-305C>T | |
| XM_006710595.2:c.11219-305C>T | XP_006710658.1:n.11219-305C>T | |
| XM_006710596.2:c.11198-305C>T | XP_006710659.1:n.11198-305C>T | |
| XM_006710597.2:c.10721-305C>T | XP_006710660.1:n.10721-305C>T | |
| XM_011541317.1:c.11270-305C>T | XP_011539619.1:n.11270-305C>T | |
| XM_011541318.1:c.11270-305C>T | XP_011539620.1:n.11270-305C>T | |
| XM_011541319.1:c.11270-305C>T | XP_011539621.1:n.11270-305C>T | |
| XM_011541320.1:c.10991-305C>T | XP_011539622.1:n.10991-305C>T | |
| XM_011541321.1:c.10775-305C>T | XP_011539623.1:n.10775-305C>T | |
| XM_011541318.2:c.11270-305C>T | XP_011539620.1:n.11270-305C>T | |
| XM_017001120.1:c.10916-305C>T | XP_016856609.1:n.10916-305C>T | |
| XM_017001121.1:c.10865-305C>T | XP_016856610.1:n.10865-305C>T | |
| XM_017001122.1:c.10862-305C>T | XP_016856611.1:n.10862-305C>T | |
| NM_005529.7:c.10721-305C>T MANE Select | NP_005520.4:n.10721-305C>T | |
| NM_001291860.2:c.10724-305C>T | NP_001278789.1:n.10724-305C>T |