Linked Data
ClinVar Variation Id:
295799
dbSNP Id:
rs150126997
ExAC:
1:22178090 A / G
gnomAD v2:
1-22178090-A-G
gnomAD v3:
1-21851597-A-G
gnomAD v4:
1-21851597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21851597A>G , CM000663.2:g.21851597A>G | GRCh38 |
| NC_000001.10:g.22178090A>G , CM000663.1:g.22178090A>G | GRCh37 |
| NC_000001.9:g.22050677A>G | NCBI36 |
| NG_016740.1:g.90661T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.7107T>C MANE Select | ENSP00000363827.3:p.His2369= | |
| ENST00000374695.7:c.7107T>C | ENSP00000363827.3:p.His2369= | |
| ENST00000493940.2:n.305-7T>C | ||
| NM_001291860.1:c.7110T>C | NP_001278789.1:p.His2370= | |
| NM_005529.6:c.7107T>C | NP_005520.4:p.His2369= | |
| XM_006710594.2:c.7653T>C | XP_006710657.1:p.His2551= | |
| XM_006710595.2:c.7605T>C | XP_006710658.1:p.His2535= | |
| XM_006710596.2:c.7584T>C | XP_006710659.1:p.His2528= | |
| XM_006710597.2:c.7107T>C | XP_006710660.1:p.His2369= | |
| XM_011541317.1:c.7656T>C | XP_011539619.1:p.His2552= | |
| XM_011541318.1:c.7656T>C | XP_011539620.1:p.His2552= | |
| XM_011541319.1:c.7656T>C | XP_011539621.1:p.His2552= | |
| XM_011541320.1:c.7377T>C | XP_011539622.1:p.His2459= | |
| XM_011541321.1:c.7161T>C | XP_011539623.1:p.His2387= | |
| XM_011541322.1:c.7656T>C | XP_011539624.1:p.His2552= | |
| XM_011541318.2:c.7656T>C | XP_011539620.1:p.His2552= | |
| XM_017001120.1:c.7302T>C | XP_016856609.1:p.His2434= | |
| XM_017001121.1:c.7251T>C | XP_016856610.1:p.His2417= | |
| XM_017001122.1:c.7248T>C | XP_016856611.1:p.His2416= | |
| NM_005529.7:c.7107T>C MANE Select | NP_005520.4:p.His2369= | |
| NM_001291860.2:c.7110T>C | NP_001278789.1:p.His2370= |