Linked Data
ClinVar Variation Id:
627008
ClinVar RCV Id:
RCV000851705
dbSNP Id:
rs199469500
COSMIC:
COSM3597937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93879264G>A , CM000665.2:g.93879264G>A | GRCh38 |
| NC_000003.11:g.93598108G>A , CM000665.1:g.93598108G>A | GRCh37 |
| NC_000003.10:g.95080798G>A | NCBI36 |
| NG_009813.1:g.99827C>T , LRG_572:g.99827C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348974.5:c.1543C>T | ENSP00000330021.7:p.Arg515Cys | |
| ENST00000394236.9:c.1543C>T MANE Select | ENSP00000377783.3:p.Arg515Cys | |
| ENST00000407433.6:c.1498C>T | ENSP00000385794.2:p.Arg500Cys | |
| ENST00000647936.1:c.1543C>T | ENSP00000496822.1:p.Arg515Cys | |
| ENST00000648381.1:n.1711C>T | ||
| ENST00000648853.1:c.1501C>T | ENSP00000497262.1:p.Arg501Cys | |
| ENST00000649103.1:c.1642C>T | ENSP00000497962.1:n.1642C>T | |
| ENST00000649585.1:c.486C>T | ENSP00000498163.1:n.486C>T | |
| ENST00000650591.1:c.1639C>T | ENSP00000497376.1:p.Arg547Cys | |
| ENST00000394236.7:c.1543C>T | ENSP00000377783.3:p.Arg515Cys | |
| ENST00000407433.5:c.1150C>T | ENSP00000385794.1:p.Arg384Cys | |
| NM_000313.3:c.1543C>T , LRG_572t1:c.1543C>T | NP_000304.2:p.Arg515Cys | |
| NM_001314077.1:c.1639C>T , LRG_572t2:c.1639C>T | NP_001301006.1:p.Arg547Cys | |
| NM_000313.4:c.1543C>T MANE Select | NP_000304.2:p.Arg515Cys | |
| NM_001314077.2:c.1639C>T | NP_001301006.1:p.Arg547Cys |