Linked Data
ClinVar Variation Id:
295736
dbSNP Id:
rs189103460
ExAC:
1:22162121 G / A
gnomAD v2:
1-22162121-G-A
gnomAD v3:
1-21835628-G-A
gnomAD v4:
1-21835628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21835628G>A , CM000663.2:g.21835628G>A | GRCh38 |
| NC_000001.10:g.22162121G>A , CM000663.1:g.22162121G>A | GRCh37 |
| NC_000001.9:g.22034708G>A | NCBI36 |
| NG_016740.1:g.106630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.10365C>T MANE Select | ENSP00000363827.3:p.Asn3455= | |
| ENST00000374676.4:c.192C>T | ||
| ENST00000374695.7:c.10365C>T | ENSP00000363827.3:p.Asn3455= | |
| ENST00000471322.2:n.126C>T | ||
| NM_001291860.1:c.10368C>T | NP_001278789.1:p.Asn3456= | |
| NM_005529.6:c.10365C>T | NP_005520.4:p.Asn3455= | |
| XM_006710594.2:c.10911C>T | XP_006710657.1:p.Asn3637= | |
| XM_006710595.2:c.10863C>T | XP_006710658.1:p.Asn3621= | |
| XM_006710596.2:c.10842C>T | XP_006710659.1:p.Asn3614= | |
| XM_006710597.2:c.10365C>T | XP_006710660.1:p.Asn3455= | |
| XM_011541317.1:c.10914C>T | XP_011539619.1:p.Asn3638= | |
| XM_011541318.1:c.10914C>T | XP_011539620.1:p.Asn3638= | |
| XM_011541319.1:c.10914C>T | XP_011539621.1:p.Asn3638= | |
| XM_011541320.1:c.10635C>T | XP_011539622.1:p.Asn3545= | |
| XM_011541321.1:c.10419C>T | XP_011539623.1:p.Asn3473= | |
| XM_011541318.2:c.10914C>T | XP_011539620.1:p.Asn3638= | |
| XM_017001120.1:c.10560C>T | XP_016856609.1:p.Asn3520= | |
| XM_017001121.1:c.10509C>T | XP_016856610.1:p.Asn3503= | |
| XM_017001122.1:c.10506C>T | XP_016856611.1:p.Asn3502= | |
| NM_005529.7:c.10365C>T MANE Select | NP_005520.4:p.Asn3455= | |
| NM_001291860.2:c.10368C>T | NP_001278789.1:p.Asn3456= |