Linked Data
ClinVar Variation Id:
1391052
ClinVar RCV Id:
RCV001889703
dbSNP Id:
rs201627778
gnomAD v4:
7-150948462-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948462G>T , CM000669.2:g.150948462G>T | GRCh38 |
| NC_000007.13:g.150645550G>T , CM000669.1:g.150645550G>T | GRCh37 |
| NC_000007.12:g.150276483G>T | NCBI36 |
| NG_008916.1:g.34465C>A , LRG_288:g.34465C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3507C>A | ||
| ENST00000262186.10:c.2674C>A MANE Select | ENSP00000262186.5:p.Arg892Ser | |
| ENST00000330883.9:c.1654C>A | ENSP00000328531.4:p.Arg552Ser | |
| ENST00000262186.9:c.2674C>A | ENSP00000262186.5:p.Arg892Ser | |
| ENST00000330883.8:c.1654C>A | ENSP00000328531.4:p.Arg552Ser | |
| NM_000238.3:c.2674C>A , LRG_288t1:c.2674C>A | NP_000229.1:p.Arg892Ser | |
| NM_172057.2:c.1654C>A , LRG_288t3:c.1654C>A | NP_742054.1:p.Arg552Ser | |
| XM_011516185.1:c.2374C>A | XP_011514487.1:p.Arg792Ser | |
| XM_011516186.1:c.2674C>A | XP_011514488.1:p.Arg892Ser | |
| XM_011516185.2:c.2374C>A | XP_011514487.1:p.Arg792Ser | |
| XM_011516186.3:c.2674C>A | XP_011514488.1:p.Arg892Ser | |
| XM_017012195.1:c.2524C>A | XP_016867684.1:p.Arg842Ser | |
| XM_017012196.1:c.2497C>A | XP_016867685.1:p.Arg833Ser | |
| NM_000238.4:c.2674C>A MANE Select | NP_000229.1:p.Arg892Ser | |
| NM_172057.3:c.1654C>A | NP_742054.1:p.Arg552Ser |