Linked Data
ClinVar Variation Id:
939
ClinVar RCV Id:
RCV000000988
RCV000179306
RCV000586182
RCV000633470
RCV000984269
RCV000984270
RCV000984271
RCV002512629
dbSNP Id:
rs72555366
ExAC:
3:33099692 G / A
gnomAD v2:
3-33099692-G-A
gnomAD v3:
3-33058200-G-A
gnomAD v4:
3-33058200-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33058200G>A , CM000665.2:g.33058200G>A | GRCh38 |
| NC_000003.11:g.33099692G>A , CM000665.1:g.33099692G>A | GRCh37 |
| NC_000003.10:g.33074696G>A | NCBI36 |
| NG_009005.1:g.44003C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.622C>T MANE Select | ENSP00000306920.4:p.Arg208Cys | |
| ENST00000307363.9:c.622C>T | ENSP00000306920.4:p.Arg208Cys | |
| ENST00000307377.12:c.341-4651C>T | ENSP00000305920.8:n.341-4651C>T | |
| ENST00000399402.7:c.532C>T | ENSP00000382333.2:p.Arg178Cys | |
| ENST00000415454.1:c.145C>T | ENSP00000411813.1:p.Arg49Cys | |
| ENST00000438227.1:c.*114C>T | ENSP00000401250.1:n.*114C>T | |
| ENST00000440656.1:c.229C>T | ENSP00000411769.1:p.Arg77Cys | |
| ENST00000446732.5:c.*65C>T | ENSP00000407365.1:n.*65C>T | |
| ENST00000482097.5:n.109-4651C>T | ||
| ENST00000485698.5:n.137-4651C>T | ||
| ENST00000498537.5:n.133-4651C>T | ||
| NM_000404.2:c.622C>T | NP_000395.2:p.Arg208Cys | |
| NM_000404.3:c.622C>T | NP_000395.2:p.Arg208Cys | |
| NM_001079811.1:c.532C>T | NP_001073279.1:p.Arg178Cys | |
| NM_001079811.2:c.532C>T | NP_001073279.1:p.Arg178Cys | |
| NM_001135602.1:c.341-4651C>T | NP_001129074.1:n.341-4651C>T | |
| NM_001135602.2:c.341-4651C>T | NP_001129074.1:n.341-4651C>T | |
| NM_001317040.1:c.766C>T | NP_001303969.1:p.Arg256Cys | |
| NM_000404.4:c.622C>T MANE Select | NP_000395.3:p.Arg208Cys | |
| NM_001079811.3:c.532C>T | NP_001073279.2:p.Arg178Cys | |
| NM_001135602.3:c.341-4651C>T | NP_001129074.2:n.341-4651C>T | |
| NM_001317040.2:c.766C>T | NP_001303969.2:p.Arg256Cys | |
| NM_001393580.1:c.622C>T | NP_001380509.1:p.Arg208Cys |