Linked Data
ClinVar Variation Id:
30251
ClinVar RCV Id:
RCV000023175
dbSNP Id:
rs387906834
ExAC:
1:160012130 G / A
gnomAD v2:
1-160012130-G-A
gnomAD v4:
1-160042340-G-A
PubMed:
PMID:21849804
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042340G>A , CM000663.2:g.160042340G>A | GRCh38 |
| NC_000001.10:g.160012130G>A , CM000663.1:g.160012130G>A | GRCh37 |
| NC_000001.9:g.158278754G>A | NCBI36 |
| NG_016411.1:g.32832C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.165C>T | ||
| ENST00000636689.1:n.95-2992C>T | ||
| ENST00000637644.1:c.193C>T | ENSP00000490282.1:p.Arg65Cys | |
| ENST00000638728.1:c.193C>T | ENSP00000492619.1:p.Arg65Cys | |
| ENST00000638868.1:c.193C>T | ENSP00000491250.1:p.Arg65Cys | |
| ENST00000639408.1:c.193C>T | ENSP00000491635.1:p.Arg65Cys | |
| ENST00000640017.1:c.163C>T | ENSP00000491337.1:p.Arg55Cys | |
| ENST00000644903.1:c.193C>T MANE Select | ENSP00000495557.1:p.Arg65Cys | |
| ENST00000368089.3:c.193C>T | ENSP00000357068.3:p.Arg65Cys | |
| NM_002241.4:c.193C>T | NP_002232.2:p.Arg65Cys | |
| NM_002241.5:c.193C>T MANE Select | NP_002232.2:p.Arg65Cys |