gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.84869793 (NFE)
Genomes Max Group AF
0.84869793 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138472645A>G , CM000669.2:g.138472645A>G | GRCh38 |
| NC_000007.13:g.138157390A>G , CM000669.1:g.138157390A>G | GRCh37 |
| NC_000007.12:g.137807930A>G | NCBI36 |
| NG_023286.1:g.17312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343526.9:c.364+11733A>G MANE Select | ENSP00000340507.4:n.364+11733A>G | |
| ENST00000343526.8:c.364+11733A>G | ENSP00000340507.4:n.364+11733A>G | |
| ENST00000415680.6:c.364+11733A>G | ENSP00000390829.2:n.364+11733A>G | |
| ENST00000497516.5:n.238+11343A>G | ||
| ENST00000620194.1:c.352+11733A>G | ENSP00000484482.1:n.352+11733A>G | |
| NM_003852.3:c.364+11733A>G | NP_003843.3:n.364+11733A>G | |
| NM_015905.2:c.364+11733A>G | NP_056989.2:n.364+11733A>G | |
| XM_011516650.1:c.364+11733A>G | XP_011514952.1:n.364+11733A>G | |
| XM_024446981.1:c.307+11343A>G | XP_024302749.1:n.307+11343A>G | |
| NM_015905.3:c.364+11733A>G MANE Select | NP_056989.2:n.364+11733A>G | |
| NM_003852.4:c.364+11733A>G | NP_003843.3:n.364+11733A>G |