gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1211104 (AMR)
Genomes Max Group AF
0.1211104 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186880054A>G , CM000663.2:g.186880054A>G | GRCh38 |
| NC_000001.10:g.186849186A>G , CM000663.1:g.186849186A>G | GRCh37 |
| NC_000001.9:g.185115809A>G | NCBI36 |
| NG_012203.1:g.56155A>G | |
| NG_012203.2:g.56155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367466.4:c.115+9538A>G MANE Select | ENSP00000356436.3:n.115+9538A>G | |
| ENST00000367466.3:c.115+9538A>G | ENSP00000356436.3:n.115+9538A>G | |
| ENST00000466600.1:n.184+9538A>G | ||
| NM_001311193.1:c.115+9538A>G | NP_001298122.1:n.115+9538A>G | |
| NM_024420.2:c.115+9538A>G | NP_077734.1:n.115+9538A>G | |
| XM_005245267.2:c.4+9310A>G | XP_005245324.1:n.4+9310A>G | |
| XM_011509641.1:c.136+9538A>G | XP_011507943.1:n.136+9538A>G | |
| XM_011509642.1:c.115+9538A>G | XP_011507944.1:n.115+9538A>G | |
| XM_011509643.1:c.115+9538A>G | XP_011507945.1:n.115+9538A>G | |
| XR_921838.1:n.176+9538A>G | ||
| XM_005245267.4:c.130+9310A>G | XP_005245324.2:n.130+9310A>G | |
| XM_011509642.2:c.115+9538A>G | XP_011507944.1:n.115+9538A>G | |
| NM_001311193.2:c.115+9538A>G | NP_001298122.2:n.115+9538A>G | |
| NM_024420.3:c.115+9538A>G MANE Select | NP_077734.2:n.115+9538A>G |