Linked Data
ClinVar Variation Id:
295854
dbSNP Id:
rs572839851
ExAC:
1:22200429 A / G
gnomAD v2:
1-22200429-A-G
gnomAD v3:
1-21873936-A-G
gnomAD v4:
1-21873936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21873936A>G , CM000663.2:g.21873936A>G | GRCh38 |
| NC_000001.10:g.22200429A>G , CM000663.1:g.22200429A>G | GRCh37 |
| NC_000001.9:g.22073016A>G | NCBI36 |
| NG_016740.1:g.68322T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.3732T>C MANE Select | ENSP00000363827.3:p.Arg1244= | |
| ENST00000374695.7:c.3732T>C | ENSP00000363827.3:p.Arg1244= | |
| ENST00000427897.1:c.295T>C | ||
| NM_001291860.1:c.3735T>C | NP_001278789.1:p.Arg1245= | |
| NM_005529.6:c.3732T>C | NP_005520.4:p.Arg1244= | |
| XM_006710594.2:c.3783T>C | XP_006710657.1:p.Arg1261= | |
| XM_006710595.2:c.3735T>C | XP_006710658.1:p.Arg1245= | |
| XM_006710596.2:c.3786T>C | XP_006710659.1:p.Arg1262= | |
| XM_006710597.2:c.3732T>C | XP_006710660.1:p.Arg1244= | |
| XM_011541317.1:c.3786T>C | XP_011539619.1:p.Arg1262= | |
| XM_011541318.1:c.3786T>C | XP_011539620.1:p.Arg1262= | |
| XM_011541319.1:c.3786T>C | XP_011539621.1:p.Arg1262= | |
| XM_011541320.1:c.3786T>C | XP_011539622.1:p.Arg1262= | |
| XM_011541321.1:c.3786T>C | XP_011539623.1:p.Arg1262= | |
| XM_011541322.1:c.3786T>C | XP_011539624.1:p.Arg1262= | |
| XM_011541318.2:c.3786T>C | XP_011539620.1:p.Arg1262= | |
| XM_017001120.1:c.3927T>C | XP_016856609.1:p.Arg1309= | |
| XM_017001121.1:c.3876T>C | XP_016856610.1:p.Arg1292= | |
| XM_017001122.1:c.3873T>C | XP_016856611.1:p.Arg1291= | |
| NM_005529.7:c.3732T>C MANE Select | NP_005520.4:p.Arg1244= | |
| NM_001291860.2:c.3735T>C | NP_001278789.1:p.Arg1245= |