Linked Data
ClinVar Variation Id:
2349106
ClinVar RCV Id:
RCV002973086
dbSNP Id:
rs1135826
ExAC:
22:42525038 A / C
gnomAD v2:
22-42525038-A-C
gnomAD v3:
22-42129036-A-C
gnomAD v4:
22-42129036-A-C
COSMIC:
COSM5907074
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129036A>C , CM000684.2:g.42129036A>C | GRCh38 |
| NC_000022.10:g.42525038A>C , CM000684.1:g.42525038A>C | GRCh37 |
| NC_000022.9:g.40854982A>C | NCBI36 |
| NG_008376.3:g.5956T>G | |
| NG_008376.4:g.6775T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.353-92T>G | ENSP00000353241.6:n.353-92T>G | |
| ENST00000645361.2:c.502T>G MANE Select | ENSP00000496150.1:p.Ser168Ala | |
| ENST00000359033.4:c.353-92T>G | ENSP00000351927.4:n.353-92T>G | |
| ENST00000360124.9:c.173-92T>G | ENSP00000353241.5:n.173-92T>G | |
| ENST00000360608.9:c.502T>G | ENSP00000353820.5:p.Ser168Ala | |
| ENST00000389970.7:c.436T>G | ENSP00000374620.4:p.Ser146Ala | |
| ENST00000488442.1:n.1226T>G | ||
| NM_000106.5:c.502T>G | NP_000097.3:p.Ser168Ala | |
| NM_001025161.2:c.353-92T>G | NP_001020332.2:n.353-92T>G | |
| XM_011529966.1:c.502T>G | XP_011528268.1:p.Ser168Ala | |
| XM_011529967.1:c.502T>G | XP_011528269.1:p.Ser168Ala | |
| XM_011529968.1:c.502T>G | XP_011528270.1:p.Ser168Ala | |
| XM_011529969.1:c.359T>G | XP_011528271.1:p.Leu120Arg | |
| XM_011529970.1:c.353-92T>G | XP_011528272.1:n.353-92T>G | |
| XM_011529971.1:c.359T>G | XP_011528273.1:p.Leu120Arg | |
| XM_011529972.1:c.502T>G | XP_011528274.1:p.Ser168Ala | |
| NM_000106.6:c.502T>G MANE Select | NP_000097.3:p.Ser168Ala | |
| NM_001025161.3:c.353-92T>G | NP_001020332.2:n.353-92T>G |