Linked Data
ClinVar Variation Id:
1091316
ClinVar RCV Id:
RCV001410741
dbSNP Id:
rs1471322504
MyVariant Identifiers:
chr3:g.46901034G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46859544G>T , CM000665.2:g.46859544G>T | GRCh38 |
| NC_000003.11:g.46901034G>T , CM000665.1:g.46901034G>T | GRCh37 |
| NC_000003.10:g.46876038G>T | NCBI36 |
| NG_007555.2:g.27626C>A , LRG_395:g.27626C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.412C>A | ENSP00000393455.2:p.Arg138= | |
| ENST00000292327.6:c.412C>A MANE Select | ENSP00000292327.4:p.Arg138= | |
| ENST00000653454.1:c.412C>A | ENSP00000499624.1:p.Arg138= | |
| ENST00000654597.1:c.412C>A | ENSP00000499406.1:p.Arg138= | |
| ENST00000655244.1:n.634C>A | ||
| ENST00000662933.1:c.412C>A | ENSP00000499577.1:p.Arg138= | |
| ENST00000664891.1:n.370C>A | ||
| ENST00000292327.4:c.412C>A | ENSP00000292327.4:p.Arg138= | |
| ENST00000395869.5:c.412C>A | ENSP00000379210.1:p.Arg138= | |
| NM_000258.2:c.412C>A , LRG_395t1:c.412C>A | NP_000249.1:p.Arg138= | |
| NM_000258.3:c.412C>A MANE Select | NP_000249.1:p.Arg138= |