gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.07244282 (NFE)
Genomes Max Group AF
0.07244282 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20752375A>G , CM000669.2:g.20752375A>G | GRCh38 |
| NC_000007.13:g.20791998A>G , CM000669.1:g.20791998A>G | GRCh37 |
| NC_000007.12:g.20758523A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404938.7:c.3430-985A>G MANE Select | ENSP00000384881.2:n.3430-985A>G | |
| ENST00000258738.10:c.2095-985A>G | ENSP00000258738.6:n.2095-985A>G | |
| ENST00000404938.6:c.3430-985A>G | ENSP00000384881.2:n.3430-985A>G | |
| ENST00000441315.1:c.930+6937A>G | ENSP00000398692.1:n.930+6937A>G | |
| NM_001163941.1:c.3430-985A>G | NP_001157413.1:n.3430-985A>G | |
| NM_178559.5:c.2095-985A>G | NP_848654.3:n.2095-985A>G | |
| XM_011515367.1:c.2095-985A>G | XP_011513669.1:n.2095-985A>G | |
| XM_011515368.1:c.2095-985A>G | XP_011513670.1:n.2095-985A>G | |
| XM_011515367.2:c.2095-985A>G | XP_011513669.1:n.2095-985A>G | |
| NM_001163941.2:c.3430-985A>G MANE Select | NP_001157413.1:n.3430-985A>G | |
| NM_178559.6:c.2095-985A>G | NP_848654.3:n.2095-985A>G |