Linked Data
ClinVar Variation Id:
941
ClinVar RCV Id:
RCV000000990
RCV000665526
RCV001223149
RCV000780302
RCV001331201
RCV002225254
RCV001642195
dbSNP Id:
rs72555372
ExAC:
3:33087629 G / A
gnomAD v2:
3-33087629-G-A
gnomAD v4:
3-33046137-G-A
PubMed:
PMID:10841810
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33046137G>A , CM000665.2:g.33046137G>A | GRCh38 |
| NC_000003.11:g.33087629G>A , CM000665.1:g.33087629G>A | GRCh37 |
| NC_000003.10:g.33062633G>A | NCBI36 |
| NG_009005.1:g.56066C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1051C>T MANE Select | ENSP00000306920.4:p.Arg351Ter | |
| ENST00000307363.9:c.1051C>T | ENSP00000306920.4:p.Arg351Ter | |
| ENST00000307377.12:c.658C>T | ENSP00000305920.8:p.Arg220Ter | |
| ENST00000399402.7:c.961C>T | ENSP00000382333.2:p.Arg321Ter | |
| ENST00000482097.5:n.426C>T | ||
| ENST00000485698.5:n.454C>T | ||
| ENST00000490658.2:n.56C>T | ||
| NM_000404.2:c.1051C>T | NP_000395.2:p.Arg351Ter | |
| NM_000404.3:c.1051C>T | NP_000395.2:p.Arg351Ter | |
| NM_001079811.1:c.961C>T | NP_001073279.1:p.Arg321Ter | |
| NM_001079811.2:c.961C>T | NP_001073279.1:p.Arg321Ter | |
| NM_001135602.1:c.658C>T | NP_001129074.1:p.Arg220Ter | |
| NM_001135602.2:c.658C>T | NP_001129074.1:p.Arg220Ter | |
| NM_001317040.1:c.1195C>T | NP_001303969.1:p.Arg399Ter | |
| NM_000404.4:c.1051C>T MANE Select | NP_000395.3:p.Arg351Ter | |
| NM_001079811.3:c.961C>T | NP_001073279.2:p.Arg321Ter | |
| NM_001135602.3:c.658C>T | NP_001129074.2:p.Arg220Ter | |
| NM_001317040.2:c.1195C>T | NP_001303969.2:p.Arg399Ter | |
| NM_001393580.1:c.1051C>T | NP_001380509.1:p.Arg351Ter |