Linked Data
ClinVar Variation Id:
92867
ClinVar RCV Id:
RCV000078665
RCV000150052
RCV001002834
RCV001195927
RCV001074904
RCV002490678
RCV004537308
dbSNP Id:
rs61750120
ExAC:
1:94508323 G / A
gnomAD v2:
1-94508323-G-A
gnomAD v3:
1-94042767-G-A
gnomAD v4:
1-94042767-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042767G>A , CM000663.2:g.94042767G>A | GRCh38 |
| NC_000001.10:g.94508323G>A , CM000663.1:g.94508323G>A | GRCh37 |
| NC_000001.9:g.94280911G>A | NCBI36 |
| NG_009073.1:g.83383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3322C>T MANE Select | ENSP00000359245.3:p.Arg1108Cys | |
| ENST00000370225.3:c.3322C>T | ENSP00000359245.3:p.Arg1108Cys | |
| ENST00000536513.5:c.-64-2678C>T | ENSP00000439707.2:n.-64-2678C>T | |
| NM_000350.2:c.3322C>T | NP_000341.2:p.Arg1108Cys | |
| NM_000350.3:c.3322C>T MANE Select | NP_000341.2:p.Arg1108Cys |