Linked Data
ClinVar Variation Id:
213155
ClinVar RCV Id:
RCV002229480
dbSNP Id:
rs754429372
ExAC:
2:189910627 G / A
gnomAD v2:
2-189910627-G-A
gnomAD v3:
2-189045901-G-A
gnomAD v4:
2-189045901-G-A
COSMIC:
COSM2712015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189045901G>A , CM000664.2:g.189045901G>A | GRCh38 |
| NC_000002.11:g.189910627G>A , CM000664.1:g.189910627G>A | GRCh37 |
| NC_000002.10:g.189618872G>A | NCBI36 |
| NG_011799.1:g.138979C>T | |
| NG_011799.2:g.138979C>T | |
| NG_011799.3:g.184401C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374866.9:c.3208C>T MANE Select | ENSP00000364000.3:p.Arg1070Cys | |
| ENST00000374866.7:c.3208C>T | ENSP00000364000.3:p.Arg1070Cys | |
| ENST00000618828.1:c.2047C>T | ENSP00000482184.1:p.Arg683Cys | |
| NM_000393.3:c.3208C>T | NP_000384.2:p.Arg1070Cys | |
| XM_011510573.1:c.3070C>T | XP_011508875.1:p.Arg1024Cys | |
| NM_000393.4:c.3208C>T | NP_000384.2:p.Arg1070Cys | |
| XM_011510573.3:c.3070C>T | XP_011508875.1:p.Arg1024Cys | |
| NM_000393.5:c.3208C>T MANE Select | NP_000384.2:p.Arg1070Cys |