gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63252839 (EAS)
Genomes Max Group AF
0.63252839 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.97877821G>A , CM000672.2:g.97877821G>A | GRCh38 |
| NC_000010.10:g.99637578G>A , CM000672.1:g.99637578G>A | GRCh37 |
| NC_000010.9:g.99627568G>A | NCBI36 |
| NG_029831.1:g.158008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370597.8:c.1819+2428C>T MANE Select | ENSP00000359629.3:n.1819+2428C>T | |
| ENST00000370597.7:c.1819+2428C>T | ENSP00000359629.3:n.1819+2428C>T | |
| ENST00000413387.5:c.1464+2428C>T | ENSP00000408445.1:n.1464+2428C>T | |
| NM_018058.6:c.1819+2428C>T | NP_060528.3:n.1819+2428C>T | |
| XM_011539917.1:c.1819+2428C>T | XP_011538219.1:n.1819+2428C>T | |
| XM_017016366.1:c.1819+2428C>T | XP_016871855.1:n.1819+2428C>T | |
| XM_017016367.1:c.1819+2428C>T | XP_016871856.1:n.1819+2428C>T | |
| NM_018058.7:c.1819+2428C>T MANE Select | NP_060528.3:n.1819+2428C>T |