Linked Data
ClinVar Variation Id:
577151
dbSNP Id:
rs1268162009
gnomAD v2:
7-150655240-T-G
gnomAD v3:
7-150958152-T-G
gnomAD v4:
7-150958152-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958152T>G , CM000669.2:g.150958152T>G | GRCh38 |
| NC_000007.13:g.150655240T>G , CM000669.1:g.150655240T>G | GRCh37 |
| NC_000007.12:g.150286173T>G | NCBI36 |
| NG_008916.1:g.24775A>C , LRG_288:g.24775A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1656A>C | ||
| ENST00000262186.10:c.823A>C MANE Select | ENSP00000262186.5:p.Ser275Arg | |
| ENST00000262186.9:c.823A>C | ENSP00000262186.5:p.Ser275Arg | |
| ENST00000430723.4:c.475A>C | ENSP00000387657.4:p.Ser159Arg | |
| ENST00000532957.5:n.1046A>C | ||
| NM_000238.3:c.823A>C , LRG_288t1:c.823A>C | NP_000229.1:p.Ser275Arg | |
| NM_172056.2:c.823A>C , LRG_288t2:c.823A>C | NP_742053.1:p.Ser275Arg | |
| XM_011516185.1:c.523A>C | XP_011514487.1:p.Ser175Arg | |
| XM_011516186.1:c.823A>C | XP_011514488.1:p.Ser275Arg | |
| XM_011516185.2:c.523A>C | XP_011514487.1:p.Ser175Arg | |
| XM_011516186.3:c.823A>C | XP_011514488.1:p.Ser275Arg | |
| XM_017012195.1:c.673A>C | XP_016867684.1:p.Ser225Arg | |
| XM_017012196.1:c.646A>C | XP_016867685.1:p.Ser216Arg | |
| NM_000238.4:c.823A>C MANE Select | NP_000229.1:p.Ser275Arg |