Linked Data
ClinVar Variation Id:
925
ClinVar RCV Id:
RCV000000973
RCV000269582
RCV000411949
RCV000411359
RCV000256168
RCV000410436
RCV001208622
dbSNP Id:
rs72555360
ExAC:
3:33099713 G / A
gnomAD v2:
3-33099713-G-A
gnomAD v3:
3-33058221-G-A
gnomAD v4:
3-33058221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33058221G>A , CM000665.2:g.33058221G>A | GRCh38 |
| NC_000003.11:g.33099713G>A , CM000665.1:g.33099713G>A | GRCh37 |
| NC_000003.10:g.33074717G>A | NCBI36 |
| NG_009005.1:g.43982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.601C>T MANE Select | ENSP00000306920.4:p.Arg201Cys | |
| ENST00000307363.9:c.601C>T | ENSP00000306920.4:p.Arg201Cys | |
| ENST00000307377.12:c.341-4672C>T | ENSP00000305920.8:n.341-4672C>T | |
| ENST00000399402.7:c.511C>T | ENSP00000382333.2:p.Arg171Cys | |
| ENST00000415454.1:c.124C>T | ENSP00000411813.1:p.Arg42Cys | |
| ENST00000438227.1:c.*93C>T | ENSP00000401250.1:n.*93C>T | |
| ENST00000440656.1:c.208C>T | ENSP00000411769.1:p.Arg70Cys | |
| ENST00000446732.5:c.*44C>T | ENSP00000407365.1:n.*44C>T | |
| ENST00000482097.5:n.109-4672C>T | ||
| ENST00000485698.5:n.137-4672C>T | ||
| ENST00000498537.5:n.133-4672C>T | ||
| NM_000404.2:c.601C>T | NP_000395.2:p.Arg201Cys | |
| NM_000404.3:c.601C>T | NP_000395.2:p.Arg201Cys | |
| NM_001079811.1:c.511C>T | NP_001073279.1:p.Arg171Cys | |
| NM_001079811.2:c.511C>T | NP_001073279.1:p.Arg171Cys | |
| NM_001135602.1:c.341-4672C>T | NP_001129074.1:n.341-4672C>T | |
| NM_001135602.2:c.341-4672C>T | NP_001129074.1:n.341-4672C>T | |
| NM_001317040.1:c.745C>T | NP_001303969.1:p.Arg249Cys | |
| NM_000404.4:c.601C>T MANE Select | NP_000395.3:p.Arg201Cys | |
| NM_001079811.3:c.511C>T | NP_001073279.2:p.Arg171Cys | |
| NM_001135602.3:c.341-4672C>T | NP_001129074.2:n.341-4672C>T | |
| NM_001317040.2:c.745C>T | NP_001303969.2:p.Arg249Cys | |
| NM_001393580.1:c.601C>T | NP_001380509.1:p.Arg201Cys |