Linked Data
ClinVar Variation Id:
181448
dbSNP Id:
rs730880961
ExAC:
3:46902193 G / A
gnomAD v2:
3-46902193-G-A
gnomAD v3:
3-46860703-G-A
gnomAD v4:
3-46860703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46860703G>A , CM000665.2:g.46860703G>A | GRCh38 |
| NC_000003.11:g.46902193G>A , CM000665.1:g.46902193G>A | GRCh37 |
| NC_000003.10:g.46877197G>A | NCBI36 |
| NG_007555.2:g.26467C>T , LRG_395:g.26467C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.280C>T | ENSP00000393455.2:p.Arg94Cys | |
| ENST00000292327.6:c.280C>T MANE Select | ENSP00000292327.4:p.Arg94Cys | |
| ENST00000653454.1:c.280C>T | ENSP00000499624.1:p.Arg94Cys | |
| ENST00000654597.1:c.280C>T | ENSP00000499406.1:p.Arg94Cys | |
| ENST00000655244.1:n.502C>T | ||
| ENST00000662933.1:c.280C>T | ENSP00000499577.1:p.Arg94Cys | |
| ENST00000664891.1:n.238C>T | ||
| ENST00000292327.4:c.280C>T | ENSP00000292327.4:p.Arg94Cys | |
| ENST00000395869.5:c.280C>T | ENSP00000379210.1:p.Arg94Cys | |
| NM_000258.2:c.280C>T , LRG_395t1:c.280C>T | NP_000249.1:p.Arg94Cys | |
| NM_000258.3:c.280C>T MANE Select | NP_000249.1:p.Arg94Cys |