Linked Data
ClinVar Variation Id:
523049
dbSNP Id:
rs751010317
ExAC:
1:196967280 C / A
gnomAD v2:
1-196967280-C-A
gnomAD v3:
1-196998150-C-A
gnomAD v4:
1-196998150-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196998150C>A , CM000663.2:g.196998150C>A | GRCh38 |
| NC_000001.10:g.196967280C>A , CM000663.1:g.196967280C>A | GRCh37 |
| NC_000001.9:g.195233903C>A | NCBI36 |
| NG_016365.1:g.25614C>A , LRG_227:g.25614C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.738C>A | ENSP00000514393.1:p.Cys246Ter | |
| ENST00000699467.1:n.1062C>A | ||
| ENST00000699468.1:c.87C>A | ENSP00000514394.1:p.Cys29Ter | |
| ENST00000699469.1:n.681C>A | ||
| ENST00000256785.5:c.993C>A MANE Select | ENSP00000256785.4:p.Cys331Ter | |
| ENST00000256785.4:c.993C>A | ENSP00000256785.4:p.Cys331Ter | |
| NM_030787.3:c.993C>A , LRG_227t1:c.993C>A | NP_110414.1:p.Cys331Ter | |
| XM_011510020.1:c.1002C>A | XP_011508322.1:p.Cys334Ter | |
| XM_011510020.2:c.1002C>A | XP_011508322.1:p.Cys334Ter | |
| NM_030787.4:c.993C>A MANE Select | NP_110414.1:p.Cys331Ter |