gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.19602141 (AMR)
Genomes Max Group AF
0.19602141 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8134057A>G , CM000682.2:g.8134057A>G | GRCh38 |
| NC_000020.10:g.8114704A>G , CM000682.1:g.8114704A>G | GRCh37 |
| NC_000020.9:g.8062704A>G | NCBI36 |
| NG_028168.1:g.6409A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.99+1307A>G MANE Select | ENSP00000338185.6:n.99+1307A>G | |
| ENST00000636319.1:c.99+1307A>G | ENSP00000490455.1:n.99+1307A>G | |
| ENST00000637919.1:c.-204-16237A>G | ENSP00000490862.1:n.-204-16237A>G | |
| ENST00000338037.10:c.99+1307A>G | ENSP00000338185.6:n.99+1307A>G | |
| ENST00000378637.6:c.99+1307A>G | ENSP00000367904.2:n.99+1307A>G | |
| ENST00000378641.7:c.99+1307A>G | ENSP00000367908.3:n.99+1307A>G | |
| ENST00000404098.6:c.99+1307A>G | ENSP00000384001.3:n.99+1307A>G | |
| ENST00000625874.2:c.-204-16237A>G | ENSP00000486301.1:n.-204-16237A>G | |
| ENST00000626161.1:n.235+1307A>G | ||
| ENST00000629992.2:c.99+1307A>G | ENSP00000486531.1:n.99+1307A>G | |
| ENST00000630495.2:c.-282-7814A>G | ENSP00000486655.1:n.-282-7814A>G | |
| NM_015192.3:c.99+1307A>G | NP_056007.1:n.99+1307A>G | |
| NM_182734.2:c.99+1307A>G | NP_877398.1:n.99+1307A>G | |
| XM_011529199.1:c.99+1307A>G | XP_011527501.1:n.99+1307A>G | |
| XM_011529202.1:c.99+1307A>G | XP_011527504.1:n.99+1307A>G | |
| NM_015192.4:c.99+1307A>G MANE Select | NP_056007.1:n.99+1307A>G | |
| NM_182734.3:c.99+1307A>G | NP_877398.1:n.99+1307A>G |