Linked Data
ClinVar Variation Id:
2363
ClinVar RCV Id:
RCV000002459
dbSNP Id:
rs121912597
ExAC:
3:143212543 G / A
gnomAD v2:
3-143212543-G-A
gnomAD v3:
3-143493701-G-A
gnomAD v4:
3-143493701-G-A
COSMIC:
COSM5455144
PubMed:
PMID:18621663
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143493701G>A , CM000665.2:g.143493701G>A | GRCh38 |
| NC_000003.11:g.143212543G>A , CM000665.1:g.143212543G>A | GRCh37 |
| NC_000003.10:g.144695233G>A | NCBI36 |
| NG_017077.1:g.359831C>T | |
| NG_017077.2:g.359831C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316549.11:c.1267C>T MANE Select | ENSP00000320246.6:p.Arg423Ter | |
| ENST00000316549.10:c.1267C>T | ENSP00000320246.6:p.Arg423Ter | |
| NM_173653.3:c.1267C>T | NP_775924.1:p.Arg423Ter | |
| XM_011512703.1:c.619C>T | XP_011511005.1:p.Arg207Ter | |
| XM_011512703.3:c.619C>T | XP_011511005.1:p.Arg207Ter | |
| XM_017006202.2:c.1267C>T | XP_016861691.1:p.Arg423Ter | |
| XM_017006203.1:c.916C>T | XP_016861692.1:p.Arg306Ter | |
| NM_173653.4:c.1267C>T MANE Select | NP_775924.1:p.Arg423Ter |