Linked Data
ClinVar Variation Id:
214017
ClinVar RCV Id:
RCV000200546
dbSNP Id:
rs747330606
ExAC:
22:41911540 G / T
gnomAD v2:
22-41911540-G-T
gnomAD v3:
22-41515536-G-T
gnomAD v4:
22-41515536-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41515536G>T , CM000684.2:g.41515536G>T | GRCh38 |
| NC_000022.10:g.41911540G>T , CM000684.1:g.41911540G>T | GRCh37 |
| NC_000022.9:g.40241486G>T | NCBI36 |
| NG_032143.1:g.51412G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216254.9:c.684+1G>T MANE Select | ENSP00000216254.4:n.684+1G>T | |
| ENST00000466237.2:c.684+1G>T | ENSP00000504719.1:n.684+1G>T | |
| ENST00000676664.1:c.747+1G>T | ENSP00000503709.1:n.747+1G>T | |
| ENST00000676714.1:c.*602+1G>T | ENSP00000504699.1:n.*602+1G>T | |
| ENST00000676748.1:c.585+1G>T | ENSP00000503371.1:n.585+1G>T | |
| ENST00000676792.1:c.519+1G>T | ENSP00000503590.1:n.519+1G>T | |
| ENST00000676822.1:n.932+1G>T | ||
| ENST00000676959.1:c.684+1G>T | ENSP00000504377.1:n.684+1G>T | |
| ENST00000677007.1:c.684+1G>T | ENSP00000504634.1:n.684+1G>T | |
| ENST00000677153.1:c.585+1G>T | ENSP00000504453.1:n.585+1G>T | |
| ENST00000677427.1:n.714+1G>T | ||
| ENST00000677516.1:c.684+1G>T | ENSP00000503370.1:n.684+1G>T | |
| ENST00000677532.1:c.708+1G>T | ENSP00000503471.1:n.708+1G>T | |
| ENST00000677554.1:c.684+1G>T | ENSP00000504513.1:n.684+1G>T | |
| ENST00000677698.1:c.1057+1G>T | ||
| ENST00000678269.1:c.684+1G>T | ENSP00000504150.1:n.684+1G>T | |
| ENST00000678394.1:n.861+1G>T | ||
| ENST00000678454.1:n.714+1G>T | ||
| ENST00000678600.1:n.725+1G>T | ||
| ENST00000678688.1:c.684+1G>T | ENSP00000503990.1:n.684+1G>T | |
| ENST00000678788.1:c.684+1G>T | ENSP00000504684.1:n.684+1G>T | |
| ENST00000678819.1:c.*547+1G>T | ENSP00000503199.1:n.*547+1G>T | |
| ENST00000679264.1:n.713+1G>T | ||
| ENST00000679311.1:n.714+1G>T | ||
| ENST00000679320.1:c.684+1G>T | ENSP00000504780.1:n.684+1G>T | |
| ENST00000216254.8:c.684+1G>T | ENSP00000216254.4:n.684+1G>T | |
| ENST00000396512.3:c.684+1G>T | ENSP00000379769.3:n.684+1G>T | |
| ENST00000478010.1:n.287+1G>T | ||
| ENST00000481310.1:n.23+1G>T | ||
| NM_001098.2:c.684+1G>T | NP_001089.1:n.684+1G>T | |
| XM_017028812.1:c.585+1G>T | XP_016884301.1:n.585+1G>T | |
| XM_024452250.1:c.684+1G>T | XP_024308018.1:n.684+1G>T | |
| NM_001098.3:c.684+1G>T MANE Select | NP_001089.1:n.684+1G>T |