Linked Data
ClinVar Variation Id:
295812
dbSNP Id:
rs146462440
ExAC:
1:22180779 C / T
gnomAD v2:
1-22180779-C-T
gnomAD v3:
1-21854286-C-T
gnomAD v4:
1-21854286-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21854286C>T , CM000663.2:g.21854286C>T | GRCh38 |
| NC_000001.10:g.22180779C>T , CM000663.1:g.22180779C>T | GRCh37 |
| NC_000001.9:g.22053366C>T | NCBI36 |
| NG_016740.1:g.87972G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.6346G>A MANE Select | ENSP00000363827.3:p.Val2116Met | |
| ENST00000374695.7:c.6346G>A | ENSP00000363827.3:p.Val2116Met | |
| ENST00000493940.2:n.104G>A | ||
| NM_001291860.1:c.6349G>A | NP_001278789.1:p.Val2117Met | |
| NM_005529.6:c.6346G>A | NP_005520.4:p.Val2116Met | |
| XM_006710594.2:c.6892G>A | XP_006710657.1:p.Val2298Met | |
| XM_006710595.2:c.6844G>A | XP_006710658.1:p.Val2282Met | |
| XM_006710596.2:c.6823G>A | XP_006710659.1:p.Val2275Met | |
| XM_006710597.2:c.6346G>A | XP_006710660.1:p.Val2116Met | |
| XM_011541317.1:c.6895G>A | XP_011539619.1:p.Val2299Met | |
| XM_011541318.1:c.6895G>A | XP_011539620.1:p.Val2299Met | |
| XM_011541319.1:c.6895G>A | XP_011539621.1:p.Val2299Met | |
| XM_011541320.1:c.6895G>A | XP_011539622.1:p.Val2299Met | |
| XM_011541321.1:c.6400G>A | XP_011539623.1:p.Val2134Met | |
| XM_011541322.1:c.6895G>A | XP_011539624.1:p.Val2299Met | |
| XM_011541318.2:c.6895G>A | XP_011539620.1:p.Val2299Met | |
| XM_017001120.1:c.6541G>A | XP_016856609.1:p.Val2181Met | |
| XM_017001121.1:c.6490G>A | XP_016856610.1:p.Val2164Met | |
| XM_017001122.1:c.6487G>A | XP_016856611.1:p.Val2163Met | |
| NM_005529.7:c.6346G>A MANE Select | NP_005520.4:p.Val2116Met | |
| NM_001291860.2:c.6349G>A | NP_001278789.1:p.Val2117Met |