Linked Data
ClinVar Variation Id:
451739
dbSNP Id:
rs146143252
ExAC:
5:148418045 G / A
gnomAD v2:
5-148418045-G-A
gnomAD v3:
5-149038482-G-A
gnomAD v4:
5-149038482-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149038482G>A , CM000667.2:g.149038482G>A | GRCh38 |
| NC_000005.9:g.148418045G>A , CM000667.1:g.148418045G>A | GRCh37 |
| NC_000005.8:g.148398238G>A | NCBI36 |
| NG_007947.2:g.29693C>T , LRG_269:g.29693C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.704C>T | ||
| ENST00000515425.6:c.814C>T MANE Select | ENSP00000423660.1:p.Arg272Cys | |
| ENST00000674655.1:c.76C>T | ENSP00000502840.1:p.Arg26Cys | |
| ENST00000674983.1:c.*72C>T | ENSP00000502387.1:n.*72C>T | |
| ENST00000675793.1:c.814C>T | ENSP00000502039.1:p.Arg272Cys | |
| ENST00000676056.1:c.*72C>T | ENSP00000501827.1:n.*72C>T | |
| ENST00000323829.9:c.*72C>T | ENSP00000313025.5:n.*72C>T | |
| ENST00000503071.1:n.281C>T | ||
| ENST00000504517.5:c.214C>T | ENSP00000421779.1:p.Arg72Cys | |
| ENST00000504690.5:c.814C>T | ENSP00000425627.1:p.Arg272Cys | |
| ENST00000511307.5:c.*594C>T | ENSP00000421420.1:n.*594C>T | |
| ENST00000512049.5:c.793C>T | ENSP00000421860.1:p.Arg265Cys | |
| ENST00000513604.5:c.*72C>T | ENSP00000423111.1:n.*72C>T | |
| ENST00000515425.5:c.814C>T | ENSP00000423660.1:p.Arg272Cys | |
| NM_024577.3:c.814C>T , LRG_269t1:c.814C>T | NP_078853.2:p.Arg272Cys | |
| NM_024577.4:c.814C>T MANE Select | NP_078853.2:p.Arg272Cys |