dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022544 (EAS)
Genomes Max Group AF
0.00052565 (EAS)
Exomes Max Group AF
0.00013669 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126667C>G , CM000684.2:g.42126667C>G | GRCh38 |
| NC_000022.10:g.42522669C>G , CM000684.1:g.42522669C>G | GRCh37 |
| NC_000022.9:g.40852613C>G | NCBI36 |
| NG_008376.3:g.8325G>C | |
| NG_008376.4:g.9144G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.1199G>C | ENSP00000353241.6:n.1199G>C | |
| ENST00000645361.2:c.1401G>C MANE Select | ENSP00000496150.1:p.Ser467= | |
| ENST00000359033.4:c.1248G>C | ENSP00000351927.4:p.Ser416= | |
| ENST00000360124.9:c.1019G>C | ENSP00000353241.5:n.1019G>C | |
| ENST00000360608.9:c.1401G>C | ENSP00000353820.5:p.Ser467= | |
| ENST00000389970.7:c.1392G>C | ENSP00000374620.4:p.Ser464= | |
| ENST00000488442.1:n.2125G>C | ||
| NM_000106.5:c.1401G>C | NP_000097.3:p.Ser467= | |
| NM_001025161.2:c.1248G>C | NP_001020332.2:p.Ser416= | |
| XM_011529966.1:c.1401G>C | XP_011528268.1:p.Ser467= | |
| XM_011529967.1:c.1401G>C | XP_011528269.1:p.Ser467= | |
| XM_011529968.1:c.1401G>C | XP_011528270.1:p.Ser467= | |
| XM_011529969.1:c.1257G>C | XP_011528271.1:p.Ser419= | |
| XM_011529970.1:c.1248G>C | XP_011528272.1:p.Ser416= | |
| XM_011529971.1:c.1257G>C | XP_011528273.1:p.Ser419= | |
| NM_000106.6:c.1401G>C MANE Select | NP_000097.3:p.Ser467= | |
| NM_001025161.3:c.1248G>C | NP_001020332.2:p.Ser416= |