Linked Data
dbSNP Id:
rs750506249
ExAC:
20:33523484 T / C
gnomAD v2:
20-33523484-T-C
gnomAD v4:
20-34935681-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34935681T>C , CM000682.2:g.34935681T>C | GRCh38 |
| NC_000020.10:g.33523484T>C , CM000682.1:g.33523484T>C | GRCh37 |
| NC_000020.9:g.32987145T>C | NCBI36 |
| NG_008848.1:g.25118A>G | |
| NG_008848.2:g.25347A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642493.1:c.*474+1082A>G | ENSP00000493524.1:n.*474+1082A>G | |
| ENST00000642498.1:c.768-39A>G | ENSP00000493631.1:n.768-39A>G | |
| ENST00000642538.1:c.*112-39A>G | ENSP00000493927.1:n.*112-39A>G | |
| ENST00000643188.1:c.768-39A>G | ENSP00000493903.1:n.768-39A>G | |
| ENST00000643443.1:c.*475-39A>G | ENSP00000495572.1:n.*475-39A>G | |
| ENST00000643502.1:c.425-39A>G | ||
| ENST00000643908.1:n.1052+1262A>G | ||
| ENST00000644538.1:n.1045-39A>G | ||
| ENST00000644793.1:c.768-39A>G | ENSP00000495750.1:n.768-39A>G | |
| ENST00000645328.1:c.146-39A>G | ||
| ENST00000645408.1:c.367+1082A>G | ||
| ENST00000645723.1:n.2007-39A>G | ||
| ENST00000646405.1:c.*252+1082A>G | ENSP00000493744.1:n.*252+1082A>G | |
| ENST00000646497.1:n.713-39A>G | ||
| ENST00000646502.1:n.1250-39A>G | ||
| ENST00000646512.1:n.980+1082A>G | ||
| ENST00000646735.1:c.435-39A>G | ENSP00000493763.1:n.435-39A>G | |
| ENST00000646766.1:c.*398-39A>G | ENSP00000494333.1:n.*398-39A>G | |
| ENST00000651619.1:c.768-39A>G MANE Select | ENSP00000498303.1:n.768-39A>G | |
| ENST00000216951.6:c.768-39A>G | ENSP00000216951.2:n.768-39A>G | |
| ENST00000451957.2:c.435-39A>G | ENSP00000407517.2:n.435-39A>G | |
| NM_000178.2:c.768-39A>G | NP_000169.1:n.768-39A>G | |
| XM_005260406.3:c.768-39A>G | XP_005260463.1:n.768-39A>G | |
| XM_011528796.1:c.768-39A>G | XP_011527098.1:n.768-39A>G | |
| NM_000178.4:c.768-39A>G MANE Select | NP_000169.1:n.768-39A>G | |
| NM_001322494.1:c.768-39A>G | NP_001309423.1:n.768-39A>G | |
| NM_001322495.1:c.768-39A>G | NP_001309424.1:n.768-39A>G |