Linked Data
ClinVar Variation Id:
295811
dbSNP Id:
rs371812575
ExAC:
1:22179512 G / A
gnomAD v2:
1-22179512-G-A
gnomAD v3:
1-21853019-G-A
gnomAD v4:
1-21853019-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21853019G>A , CM000663.2:g.21853019G>A | GRCh38 |
| NC_000001.10:g.22179512G>A , CM000663.1:g.22179512G>A | GRCh37 |
| NC_000001.9:g.22052099G>A | NCBI36 |
| NG_016740.1:g.89239C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6491C>T MANE Select | ENSP00000363827.3:p.Ala2164Val | |
| ENST00000374695.7:c.6491C>T | ENSP00000363827.3:p.Ala2164Val | |
| ENST00000493940.2:n.249C>T | ||
| NM_001291860.1:c.6494C>T | NP_001278789.1:p.Ala2165Val | |
| NM_005529.6:c.6491C>T | NP_005520.4:p.Ala2164Val | |
| XM_006710594.2:c.7037C>T | XP_006710657.1:p.Ala2346Val | |
| XM_006710595.2:c.6989C>T | XP_006710658.1:p.Ala2330Val | |
| XM_006710596.2:c.6968C>T | XP_006710659.1:p.Ala2323Val | |
| XM_006710597.2:c.6491C>T | XP_006710660.1:p.Ala2164Val | |
| XM_011541317.1:c.7040C>T | XP_011539619.1:p.Ala2347Val | |
| XM_011541318.1:c.7040C>T | XP_011539620.1:p.Ala2347Val | |
| XM_011541319.1:c.7040C>T | XP_011539621.1:p.Ala2347Val | |
| XM_011541320.1:c.7040C>T | XP_011539622.1:p.Ala2347Val | |
| XM_011541321.1:c.6545C>T | XP_011539623.1:p.Ala2182Val | |
| XM_011541322.1:c.7040C>T | XP_011539624.1:p.Ala2347Val | |
| XM_011541318.2:c.7040C>T | XP_011539620.1:p.Ala2347Val | |
| XM_017001120.1:c.6686C>T | XP_016856609.1:p.Ala2229Val | |
| XM_017001121.1:c.6635C>T | XP_016856610.1:p.Ala2212Val | |
| XM_017001122.1:c.6632C>T | XP_016856611.1:p.Ala2211Val | |
| NM_005529.7:c.6491C>T MANE Select | NP_005520.4:p.Ala2164Val | |
| NM_001291860.2:c.6494C>T | NP_001278789.1:p.Ala2165Val |