gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0593169 (NFE)
Genomes Max Group AF
0.0593169 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.121189639T>C , CM000671.2:g.121189639T>C | GRCh38 |
| NC_000009.11:g.123951917T>C , CM000671.1:g.123951917T>C | GRCh37 |
| NC_000009.10:g.122991738T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703996.1:c.284+915A>G | ENSP00000515610.1:n.284+915A>G | |
| ENST00000703997.1:c.106+2532A>G | ENSP00000515611.1:n.106+2532A>G | |
| ENST00000703998.1:c.227+915A>G | ENSP00000515612.1:n.227+915A>G | |
| ENST00000703999.1:c.284+915A>G | ENSP00000515613.1:n.284+915A>G | |
| ENST00000704000.1:c.284+915A>G | ENSP00000515614.1:n.284+915A>G | |
| ENST00000704001.1:n.75-2620A>G | ||
| ENST00000373840.9:c.284+915A>G MANE Select | ENSP00000362946.4:n.284+915A>G | |
| ENST00000373840.8:c.284+915A>G | ENSP00000362946.4:n.284+915A>G | |
| ENST00000451303.1:c.284+915A>G | ENSP00000400107.1:n.284+915A>G | |
| NM_016322.3:c.284+915A>G | NP_057406.2:n.284+915A>G | |
| NM_016322.4:c.284+915A>G MANE Select | NP_057406.2:n.284+915A>G |