Linked Data
ClinVar Variation Id:
418488
dbSNP Id:
rs750529207
ExAC:
5:148407710 G / A
gnomAD v2:
5-148407710-G-A
gnomAD v3:
5-149028147-G-A
gnomAD v4:
5-149028147-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149028147G>A , CM000667.2:g.149028147G>A | GRCh38 |
| NC_000005.9:g.148407710G>A , CM000667.1:g.148407710G>A | GRCh37 |
| NC_000005.8:g.148387903G>A | NCBI36 |
| NG_007947.2:g.40028C>T , LRG_269:g.40028C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502274.2:c.1481C>T | ||
| ENST00000515425.6:c.1585C>T MANE Select | ENSP00000423660.1:p.Arg529Cys | |
| ENST00000675793.1:c.*869C>T | ENSP00000502039.1:n.*869C>T | |
| ENST00000676056.1:c.*1095C>T | ENSP00000501827.1:n.*1095C>T | |
| ENST00000323829.9:c.*973C>T | ENSP00000313025.5:n.*973C>T | |
| ENST00000504517.5:c.1115C>T | ENSP00000421779.1:n.1115C>T | |
| ENST00000504690.5:c.1585C>T | ENSP00000425627.1:p.Arg529Cys | |
| ENST00000510779.1:c.635C>T | ||
| ENST00000511307.5:c.*1365C>T | ENSP00000421420.1:n.*1365C>T | |
| ENST00000512049.5:c.1564C>T | ENSP00000421860.1:p.Arg522Cys | |
| ENST00000513604.5:c.*973C>T | ENSP00000423111.1:n.*973C>T | |
| ENST00000515425.5:c.1585C>T | ENSP00000423660.1:p.Arg529Cys | |
| NM_024577.3:c.1585C>T , LRG_269t1:c.1585C>T | NP_078853.2:p.Arg529Cys | |
| NM_024577.4:c.1585C>T MANE Select | NP_078853.2:p.Arg529Cys |