gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.28745173 (SAS)
Genomes Max Group AF
0.28745173 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34937604G>A , CM000682.2:g.34937604G>A | GRCh38 |
| NC_000020.10:g.33525407G>A , CM000682.1:g.33525407G>A | GRCh37 |
| NC_000020.9:g.32989068G>A | NCBI36 |
| NG_008848.1:g.23195C>T | |
| NG_008848.2:g.23424C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642493.1:c.*316-581C>T | ENSP00000493524.1:n.*316-581C>T | |
| ENST00000642498.1:c.609-581C>T | ENSP00000493631.1:n.609-581C>T | |
| ENST00000642538.1:c.352-581C>T | ENSP00000493927.1:n.352-581C>T | |
| ENST00000643188.1:c.609-581C>T | ENSP00000493903.1:n.609-581C>T | |
| ENST00000643443.1:c.*316-581C>T | ENSP00000495572.1:n.*316-581C>T | |
| ENST00000643502.1:c.266-581C>T | ||
| ENST00000643908.1:n.972-581C>T | ||
| ENST00000644538.1:n.886-581C>T | ||
| ENST00000644793.1:c.609-581C>T | ENSP00000495750.1:n.609-581C>T | |
| ENST00000645408.1:c.209-581C>T | ||
| ENST00000645723.1:n.1848-581C>T | ||
| ENST00000646405.1:c.*94-581C>T | ENSP00000493744.1:n.*94-581C>T | |
| ENST00000646497.1:n.556-581C>T | ||
| ENST00000646502.1:n.1091-581C>T | ||
| ENST00000646512.1:n.822-581C>T | ||
| ENST00000646735.1:c.276-581C>T | ENSP00000493763.1:n.276-581C>T | |
| ENST00000646766.1:c.*239-581C>T | ENSP00000494333.1:n.*239-581C>T | |
| ENST00000651619.1:c.609-581C>T MANE Select | ENSP00000498303.1:n.609-581C>T | |
| ENST00000216951.6:c.609-581C>T | ENSP00000216951.2:n.609-581C>T | |
| ENST00000451957.2:c.276-581C>T | ENSP00000407517.2:n.276-581C>T | |
| NM_000178.2:c.609-581C>T | NP_000169.1:n.609-581C>T | |
| XM_005260406.3:c.609-581C>T | XP_005260463.1:n.609-581C>T | |
| XM_011528796.1:c.609-581C>T | XP_011527098.1:n.609-581C>T | |
| NM_000178.4:c.609-581C>T MANE Select | NP_000169.1:n.609-581C>T | |
| NM_001322494.1:c.609-581C>T | NP_001309423.1:n.609-581C>T | |
| NM_001322495.1:c.609-581C>T | NP_001309424.1:n.609-581C>T |