Linked Data
ClinVar Variation Id:
255474
dbSNP Id:
rs734111
ExAC:
20:33533736 A / C
gnomAD v2:
20-33533736-A-C
gnomAD v3:
20-34945933-A-C
gnomAD v4:
20-34945933-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34945933A>C , CM000682.2:g.34945933A>C | GRCh38 |
| NC_000020.10:g.33533736A>C , CM000682.1:g.33533736A>C | GRCh37 |
| NC_000020.9:g.32997397A>C | NCBI36 |
| NG_008848.1:g.14866T>G | |
| NG_008848.2:g.15095T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642493.1:c.130-2927T>G | ENSP00000493524.1:n.130-2927T>G | |
| ENST00000642498.1:c.275+20T>G | ENSP00000493631.1:n.275+20T>G | |
| ENST00000642538.1:c.275+20T>G | ENSP00000493927.1:n.275+20T>G | |
| ENST00000643188.1:c.275+20T>G | ENSP00000493903.1:n.275+20T>G | |
| ENST00000643271.1:c.275+20T>G | ENSP00000496125.1:n.275+20T>G | |
| ENST00000643443.1:c.228+20T>G | ENSP00000495572.1:n.228+20T>G | |
| ENST00000643690.1:n.227+20T>G | ||
| ENST00000643908.1:n.335+20T>G | ||
| ENST00000644197.1:n.347+20T>G | ||
| ENST00000644538.1:n.249+20T>G | ||
| ENST00000644793.1:c.275+20T>G | ENSP00000495750.1:n.275+20T>G | |
| ENST00000645102.1:c.275+20T>G | ENSP00000495829.1:n.275+20T>G | |
| ENST00000645723.1:n.1211+20T>G | ||
| ENST00000646405.1:c.275+20T>G | ENSP00000493744.1:n.275+20T>G | |
| ENST00000646497.1:n.222+20T>G | ||
| ENST00000646502.1:n.757+20T>G | ||
| ENST00000646512.1:n.185+20T>G | ||
| ENST00000646735.1:c.275+20T>G | ENSP00000493763.1:n.275+20T>G | |
| ENST00000646766.1:c.275+20T>G | ENSP00000494333.1:n.275+20T>G | |
| ENST00000651619.1:c.275+20T>G MANE Select | ENSP00000498303.1:n.275+20T>G | |
| ENST00000216951.6:c.275+20T>G | ENSP00000216951.2:n.275+20T>G | |
| ENST00000451957.2:c.275+20T>G | ENSP00000407517.2:n.275+20T>G | |
| NM_000178.2:c.275+20T>G | NP_000169.1:n.275+20T>G | |
| XM_005260406.3:c.275+20T>G | XP_005260463.1:n.275+20T>G | |
| XM_011528796.1:c.275+20T>G | XP_011527098.1:n.275+20T>G | |
| NM_000178.4:c.275+20T>G MANE Select | NP_000169.1:n.275+20T>G | |
| NM_001322494.1:c.275+20T>G | NP_001309423.1:n.275+20T>G | |
| NM_001322495.1:c.275+20T>G | NP_001309424.1:n.275+20T>G |