gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47869104 (MID)
Genomes Max Group AF
0.42244343 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.54202605A>G , CM000663.2:g.54202605A>G | GRCh38 |
| NC_000001.10:g.54668278A>G , CM000663.1:g.54668278A>G | GRCh37 |
| NC_000001.9:g.54440866A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336230.10:c.255+2016A>G | ENSP00000338526.6:n.255+2016A>G | |
| ENST00000360840.9:c.346+2016A>G MANE Select | ENSP00000354086.5:n.346+2016A>G | |
| ENST00000487096.5:n.261-2413A>G | ||
| ENST00000490670.1:n.38+2364A>G | ||
| ENST00000605337.5:c.346+2016A>G | ENSP00000473980.1:n.346+2016A>G | |
| NM_016491.3:c.346+2016A>G | NP_057575.2:n.346+2016A>G | |
| XM_005270920.2:c.346+2016A>G | XP_005270977.1:n.346+2016A>G | |
| NM_001330602.1:c.346+2016A>G | NP_001317531.1:n.346+2016A>G | |
| NM_016491.4:c.346+2016A>G MANE Select | NP_057575.2:n.346+2016A>G |