Linked Data
ClinVar Variation Id:
3409
ClinVar RCV Id:
RCV000003578
dbSNP Id:
rs121434234
gnomAD v4:
17-8110211-G-T
PubMed:
PMID:11773004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8110211G>T , CM000679.2:g.8110211G>T | GRCh38 |
| NC_000017.10:g.8013529G>T , CM000679.1:g.8013529G>T | GRCh37 |
| NC_000017.9:g.7954254G>T | NCBI36 |
| NG_015807.1:g.13706C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318227.4:c.1186C>A | ENSP00000314879.4:p.Arg396Ser | |
| ENST00000380149.6:c.1186C>A | ENSP00000369494.2:p.Arg396Ser | |
| ENST00000448843.7:c.1186C>A MANE Select | ENSP00000400581.2:p.Arg396Ser | |
| ENST00000318227.3:c.1582C>A | ENSP00000314879.3:p.Arg528Ser | |
| ENST00000380149.5:c.1654C>A | ENSP00000369494.1:p.Arg552Ser | |
| ENST00000448843.6:c.1186C>A | ENSP00000400581.2:p.Arg396Ser | |
| NM_001165960.1:c.1582C>A | NP_001159432.1:p.Arg528Ser | |
| NM_021628.2:c.1186C>A | NP_067641.2:p.Arg396Ser | |
| XM_017024921.2:c.1186C>A | XP_016880410.1:p.Arg396Ser | |
| XM_017024922.2:c.1186C>A | XP_016880411.1:p.Arg396Ser | |
| XM_017024923.2:c.1186C>A | XP_016880412.1:p.Arg396Ser | |
| XM_017024924.2:c.1186C>A | XP_016880413.1:p.Arg396Ser | |
| XM_017024925.2:c.1186C>A | XP_016880414.1:p.Arg396Ser | |
| XR_001752579.2:n.1459C>A | ||
| XR_001752580.2:n.1459C>A | ||
| NM_001369446.1:c.1183C>A | NP_001356375.1:p.Arg395Ser | |
| NM_021628.3:c.1186C>A MANE Select | NP_067641.2:p.Arg396Ser |