gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43767264 (EAS)
Genomes Max Group AF
0.43767264 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.93286453A>G , CM000675.2:g.93286453A>G | GRCh38 |
| NC_000013.10:g.93938706A>G , CM000675.1:g.93938706A>G | GRCh37 |
| NC_000013.9:g.92736707A>G | NCBI36 |
| NG_011880.1:g.64629A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377047.9:c.160+58837A>G MANE Select | ENSP00000366246.3:n.160+58837A>G | |
| ENST00000377047.8:c.160+58837A>G | ENSP00000366246.3:n.160+58837A>G | |
| NM_005708.3:c.160+58837A>G | NP_005699.1:n.160+58837A>G | |
| NM_005708.4:c.160+58837A>G | NP_005699.1:n.160+58837A>G | |
| XM_017020299.2:c.-51+20496A>G | XP_016875788.1:n.-51+20496A>G | |
| NM_005708.5:c.160+58837A>G MANE Select | NP_005699.1:n.160+58837A>G |