Linked Data
ClinVar Variation Id:
295804
dbSNP Id:
rs552716935
ExAC:
1:22178363 G / A
gnomAD v2:
1-22178363-G-A
gnomAD v3:
1-21851870-G-A
gnomAD v4:
1-21851870-G-A
COSMIC:
COSM1959579
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21851870G>A , CM000663.2:g.21851870G>A | GRCh38 |
| NC_000001.10:g.22178363G>A , CM000663.1:g.22178363G>A | GRCh37 |
| NC_000001.9:g.22050950G>A | NCBI36 |
| NG_016740.1:g.90388C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6927C>T MANE Select | ENSP00000363827.3:p.Tyr2309= | |
| ENST00000374695.7:c.6927C>T | ENSP00000363827.3:p.Tyr2309= | |
| ENST00000493940.2:n.305-280C>T | ||
| NM_001291860.1:c.6930C>T | NP_001278789.1:p.Tyr2310= | |
| NM_005529.6:c.6927C>T | NP_005520.4:p.Tyr2309= | |
| XM_006710594.2:c.7473C>T | XP_006710657.1:p.Tyr2491= | |
| XM_006710595.2:c.7425C>T | XP_006710658.1:p.Tyr2475= | |
| XM_006710596.2:c.7404C>T | XP_006710659.1:p.Tyr2468= | |
| XM_006710597.2:c.6927C>T | XP_006710660.1:p.Tyr2309= | |
| XM_011541317.1:c.7476C>T | XP_011539619.1:p.Tyr2492= | |
| XM_011541318.1:c.7476C>T | XP_011539620.1:p.Tyr2492= | |
| XM_011541319.1:c.7476C>T | XP_011539621.1:p.Tyr2492= | |
| XM_011541320.1:c.7197C>T | XP_011539622.1:p.Tyr2399= | |
| XM_011541321.1:c.6981C>T | XP_011539623.1:p.Tyr2327= | |
| XM_011541322.1:c.7476C>T | XP_011539624.1:p.Tyr2492= | |
| XM_011541318.2:c.7476C>T | XP_011539620.1:p.Tyr2492= | |
| XM_017001120.1:c.7122C>T | XP_016856609.1:p.Tyr2374= | |
| XM_017001121.1:c.7071C>T | XP_016856610.1:p.Tyr2357= | |
| XM_017001122.1:c.7068C>T | XP_016856611.1:p.Tyr2356= | |
| NM_005529.7:c.6927C>T MANE Select | NP_005520.4:p.Tyr2309= | |
| NM_001291860.2:c.6930C>T | NP_001278789.1:p.Tyr2310= |