Linked Data
ClinVar Variation Id:
208389
dbSNP Id:
rs745452577
ExAC:
1:22192291 G / A
gnomAD v2:
1-22192291-G-A
gnomAD v3:
1-21865798-G-A
gnomAD v4:
1-21865798-G-A
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21865798G>A , CM000663.2:g.21865798G>A | GRCh38 |
| NC_000001.10:g.22192291G>A , CM000663.1:g.22192291G>A | GRCh37 |
| NC_000001.9:g.22064878G>A | NCBI36 |
| NG_016740.1:g.76460C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4233C>T MANE Select | ENSP00000363827.3:p.Tyr1411= | |
| ENST00000644714.1:c.627C>T | ENSP00000496473.1:p.Tyr209= | |
| ENST00000374695.7:c.4233C>T | ENSP00000363827.3:p.Tyr1411= | |
| NM_001291860.1:c.4236C>T | NP_001278789.1:p.Tyr1412= | |
| NM_005529.6:c.4233C>T | NP_005520.4:p.Tyr1411= | |
| XM_006710594.2:c.4779C>T | XP_006710657.1:p.Tyr1593= | |
| XM_006710595.2:c.4731C>T | XP_006710658.1:p.Tyr1577= | |
| XM_006710596.2:c.4710C>T | XP_006710659.1:p.Tyr1570= | |
| XM_006710597.2:c.4233C>T | XP_006710660.1:p.Tyr1411= | |
| XM_011541317.1:c.4782C>T | XP_011539619.1:p.Tyr1594= | |
| XM_011541318.1:c.4782C>T | XP_011539620.1:p.Tyr1594= | |
| XM_011541319.1:c.4782C>T | XP_011539621.1:p.Tyr1594= | |
| XM_011541320.1:c.4782C>T | XP_011539622.1:p.Tyr1594= | |
| XM_011541321.1:c.4287C>T | XP_011539623.1:p.Tyr1429= | |
| XM_011541322.1:c.4782C>T | XP_011539624.1:p.Tyr1594= | |
| XM_011541318.2:c.4782C>T | XP_011539620.1:p.Tyr1594= | |
| XM_017001120.1:c.4428C>T | XP_016856609.1:p.Tyr1476= | |
| XM_017001121.1:c.4377C>T | XP_016856610.1:p.Tyr1459= | |
| XM_017001122.1:c.4374C>T | XP_016856611.1:p.Tyr1458= | |
| NM_005529.7:c.4233C>T MANE Select | NP_005520.4:p.Tyr1411= | |
| NM_001291860.2:c.4236C>T | NP_001278789.1:p.Tyr1412= |