Linked Data
dbSNP Id:
rs77578877
ExAC:
22:42524899 C / G
gnomAD v2:
22-42524899-C-G
gnomAD v3:
22-42128897-C-G
gnomAD v4:
22-42128897-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128897C>G , CM000684.2:g.42128897C>G | GRCh38 |
| NC_000022.10:g.42524899C>G , CM000684.1:g.42524899C>G | GRCh37 |
| NC_000022.9:g.40854843C>G | NCBI36 |
| NG_008376.3:g.6095G>C | |
| NG_008376.4:g.6914G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.400G>C | ENSP00000353241.6:p.Val134Leu | |
| ENST00000645361.2:c.553G>C MANE Select | ENSP00000496150.1:p.Val185Leu | |
| ENST00000359033.4:c.400G>C | ENSP00000351927.4:p.Val134Leu | |
| ENST00000360124.9:c.220G>C | ENSP00000353241.5:p.Val74Leu | |
| ENST00000360608.9:c.553G>C | ENSP00000353820.5:p.Val185Leu | |
| ENST00000389970.7:c.487G>C | ENSP00000374620.4:p.Val163Leu | |
| ENST00000488442.1:n.1277G>C | ||
| NM_000106.5:c.553G>C | NP_000097.3:p.Val185Leu | |
| NM_001025161.2:c.400G>C | NP_001020332.2:p.Val134Leu | |
| XM_011529966.1:c.553G>C | XP_011528268.1:p.Val185Leu | |
| XM_011529967.1:c.553G>C | XP_011528269.1:p.Val185Leu | |
| XM_011529968.1:c.553G>C | XP_011528270.1:p.Val185Leu | |
| XM_011529969.1:c.409G>C | XP_011528271.1:p.Val137Leu | |
| XM_011529970.1:c.400G>C | XP_011528272.1:p.Val134Leu | |
| XM_011529971.1:c.409G>C | XP_011528273.1:p.Val137Leu | |
| XM_011529972.1:c.553G>C | XP_011528274.1:p.Val185Leu | |
| NM_000106.6:c.553G>C MANE Select | NP_000097.3:p.Val185Leu | |
| NM_001025161.3:c.400G>C | NP_001020332.2:p.Val134Leu |