gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001921 (AFR)
Genomes Max Group AF
0.00001921 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218891661C>G , CM000664.2:g.218891661C>G | GRCh38 |
| NC_000002.11:g.219756383C>G , CM000664.1:g.219756383C>G | GRCh37 |
| NC_000002.10:g.219464627C>G | NCBI36 |
| NG_012179.1:g.16129C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258411.8:c.757-1113C>G MANE Select | ENSP00000258411.3:n.757-1113C>G | |
| ENST00000258411.7:c.757-1113C>G | ENSP00000258411.3:n.757-1113C>G | |
| ENST00000458582.1:c.264-1113C>G | ||
| NM_025216.2:c.757-1113C>G | NP_079492.2:n.757-1113C>G | |
| XM_011511928.1:c.706-1113C>G | XP_011510230.1:n.706-1113C>G | |
| XM_011511929.1:c.661-1113C>G | XP_011510231.1:n.661-1113C>G | |
| XM_011511930.1:c.377-1113C>G | XP_011510232.1:n.377-1113C>G | |
| XM_011511929.2:c.661-1113C>G | XP_011510231.1:n.661-1113C>G | |
| NM_025216.3:c.757-1113C>G MANE Select | NP_079492.2:n.757-1113C>G |