Linked Data
ClinVar Variation Id:
69850
dbSNP Id:
rs138607170
ExAC:
3:38966945 G / A
gnomAD v2:
3-38966945-G-A
gnomAD v3:
3-38925454-G-A
gnomAD v4:
3-38925454-G-A
COSMIC:
COSM108712
PubMed:
PMID:24207120
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38925454G>A , CM000665.2:g.38925454G>A | GRCh38 |
| NC_000003.11:g.38966945G>A , CM000665.1:g.38966945G>A | GRCh37 |
| NC_000003.10:g.38941949G>A | NCBI36 |
| NG_033859.1:g.30108C>T | |
| NG_033859.2:g.131533C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302328.9:c.673C>T MANE Select | ENSP00000307599.3:p.Arg225Cys | |
| ENST00000668754.1:c.673C>T | ENSP00000499569.1:p.Arg225Cys | |
| ENST00000675223.1:c.673C>T | ENSP00000502481.1:p.Arg225Cys | |
| ENST00000675672.1:c.673C>T | ENSP00000502446.1:p.Arg225Cys | |
| ENST00000675892.1:c.673C>T | ENSP00000502318.1:p.Arg225Cys | |
| ENST00000676045.1:c.717C>T | ENSP00000501685.1:n.717C>T | |
| ENST00000676176.1:c.673C>T | ENSP00000501891.1:p.Arg225Cys | |
| ENST00000302328.7:c.673C>T | ENSP00000307599.3:p.Arg225Cys | |
| ENST00000444237.2:c.673C>T | ENSP00000408028.2:p.Arg225Cys | |
| ENST00000456224.7:c.673C>T | ENSP00000416757.3:p.Arg225Cys | |
| NM_001287223.1:c.673C>T | NP_001274152.1:p.Arg225Cys | |
| NM_014139.2:c.673C>T | NP_054858.2:p.Arg225Cys | |
| XM_011533320.1:c.673C>T | XP_011531622.1:p.Arg225Cys | |
| XM_011533321.1:c.92C>T | XP_011531623.1:p.Pro31Leu | |
| NM_001349253.1:c.673C>T | NP_001336182.1:p.Arg225Cys | |
| XM_011533321.2:c.92C>T | XP_011531623.1:p.Pro31Leu | |
| XM_017005647.1:c.1048C>T | XP_016861136.1:p.Arg350Cys | |
| XM_017005648.1:c.673C>T | XP_016861137.1:p.Arg225Cys | |
| XM_017005650.1:c.673C>T | XP_016861139.1:p.Arg225Cys | |
| XM_017005651.1:c.400C>T | XP_016861140.1:p.Arg134Cys | |
| XM_017005652.1:c.673C>T | XP_016861141.1:p.Arg225Cys | |
| NM_001349253.2:c.673C>T MANE Select | NP_001336182.1:p.Arg225Cys | |
| NM_014139.3:c.673C>T | NP_054858.2:p.Arg225Cys |