MyVariant.info:
GRCh38
chr22:g.42129130C>G
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.62710381 (AFR)
Genomes Max Group AF
0.66972147 (EAS)
Exomes Max Group AF
0.6164998 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129130C>G , CM000684.2:g.42129130C>G | GRCh38 |
| NG_008376.3:g.5862G>C | |
| NG_008376.4:g.6681G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-186G>C | ENSP00000353241.6:n.353-186G>C | |
| ENST00000645361.2:c.408G>C MANE Select | ENSP00000496150.1:p.Val136= | |
| ENST00000359033.4:c.353-186G>C | ENSP00000351927.4:n.353-186G>C | |
| ENST00000360124.9:c.173-186G>C | ENSP00000353241.5:n.173-186G>C | |
| ENST00000360608.9:c.408G>C | ENSP00000353820.5:p.Val136= | |
| ENST00000389970.7:c.342G>C | ENSP00000374620.4:p.Val114= | |
| ENST00000488442.1:n.1132G>C | ||
| NM_000106.5:c.408G>C | NP_000097.3:p.Val136= | |
| NM_001025161.2:c.353-186G>C | NP_001020332.2:n.353-186G>C | |
| XM_011529966.1:c.408G>C | XP_011528268.1:p.Val136= | |
| XM_011529967.1:c.408G>C | XP_011528269.1:p.Val136= | |
| XM_011529968.1:c.408G>C | XP_011528270.1:p.Val136= | |
| XM_011529969.1:c.265G>C | XP_011528271.1:p.Val89Leu | |
| XM_011529970.1:c.353-186G>C | XP_011528272.1:n.353-186G>C | |
| XM_011529971.1:c.265G>C | XP_011528273.1:p.Val89Leu | |
| XM_011529972.1:c.408G>C | XP_011528274.1:p.Val136= | |
| NM_000106.6:c.408G>C MANE Select | NP_000097.3:p.Val136= | |
| NM_001025161.3:c.353-186G>C | NP_001020332.2:n.353-186G>C |