Linked Data
ClinVar Variation Id:
2345
ClinVar RCV Id:
RCV002508771
dbSNP Id:
rs121912601
ExAC:
10:95892201 C / T
gnomAD v2:
10-95892201-C-T
gnomAD v4:
10-94132444-C-T
PubMed:
PMID:17086182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94132444C>T , CM000672.2:g.94132444C>T | GRCh38 |
| NC_000010.10:g.95892201C>T , CM000672.1:g.95892201C>T | GRCh37 |
| NC_000010.9:g.95882191C>T | NCBI36 |
| NG_015799.1:g.143456C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.553C>T | ENSP00000360426.1:p.Arg185Ter | |
| ENST00000685253.1:c.1477C>T | ENSP00000509405.1:p.Arg493Ter | |
| ENST00000686954.1:c.1477C>T | ENSP00000508416.1:p.Arg493Ter | |
| ENST00000688810.1:c.553C>T | ENSP00000509140.1:p.Arg185Ter | |
| ENST00000689233.1:n.1807C>T | ||
| ENST00000689699.1:n.1807C>T | ||
| ENST00000689982.1:n.556C>T | ||
| ENST00000692286.1:c.1477C>T | ENSP00000509490.1:p.Arg493Ter | |
| ENST00000692396.1:c.1477C>T | ENSP00000508605.1:p.Arg493Ter | |
| ENST00000371380.8:c.1477C>T MANE Select | ENSP00000360431.2:p.Arg493Ter | |
| ENST00000371385.8:c.553C>T | ENSP00000360438.4:p.Arg185Ter | |
| ENST00000675218.1:c.553C>T | ENSP00000501910.1:p.Arg185Ter | |
| ENST00000675487.1:c.1477C>T | ENSP00000502340.1:p.Arg493Ter | |
| ENST00000675718.1:c.548C>T | ||
| ENST00000676102.1:c.322C>T | ENSP00000502811.1:p.Arg108Ter | |
| ENST00000260766.7:c.1477C>T | ENSP00000260766.3:p.Arg493Ter | |
| ENST00000371375.1:c.553C>T | ENSP00000360426.1:p.Arg185Ter | |
| ENST00000371380.7:c.1477C>T | ENSP00000360431.2:p.Arg493Ter | |
| ENST00000371385.7:c.553C>T | ENSP00000360438.3:p.Arg185Ter | |
| NM_001165979.2:c.553C>T | NP_001159451.1:p.Arg185Ter | |
| NM_001288989.1:c.1477C>T | NP_001275918.1:p.Arg493Ter | |
| NM_016341.3:c.1477C>T | NP_057425.3:p.Arg493Ter | |
| XM_006717885.2:c.1477C>T | XP_006717948.1:p.Arg493Ter | |
| XM_006717886.2:c.1477C>T | XP_006717949.1:p.Arg493Ter | |
| XM_006717888.2:c.1477C>T | XP_006717951.1:p.Arg493Ter | |
| XM_006717889.2:c.1477C>T | XP_006717952.1:p.Arg493Ter | |
| XM_006717890.1:c.553C>T | XP_006717953.1:p.Arg185Ter | |
| XM_011539849.1:c.1477C>T | XP_011538151.1:p.Arg493Ter | |
| XM_011539850.1:c.322C>T | XP_011538152.1:p.Arg108Ter | |
| XM_011539851.1:c.1477C>T | XP_011538153.1:p.Arg493Ter | |
| XM_011539852.1:c.1477C>T | XP_011538154.1:p.Arg493Ter | |
| XM_006717885.4:c.1477C>T | XP_006717948.1:p.Arg493Ter | |
| XM_006717888.4:c.1477C>T | XP_006717951.1:p.Arg493Ter | |
| XM_006717889.4:c.1477C>T | XP_006717952.1:p.Arg493Ter | |
| XM_006717890.3:c.553C>T | XP_006717953.1:p.Arg185Ter | |
| XM_011539849.3:c.1477C>T | XP_011538151.1:p.Arg493Ter | |
| XM_011539850.3:c.322C>T | XP_011538152.1:p.Arg108Ter | |
| XM_011539851.3:c.1477C>T | XP_011538153.1:p.Arg493Ter | |
| XM_011539852.3:c.1477C>T | XP_011538154.1:p.Arg493Ter | |
| XM_017016310.2:c.1477C>T | XP_016871799.1:p.Arg493Ter | |
| XM_017016311.2:c.1477C>T | XP_016871800.1:p.Arg493Ter | |
| XM_017016312.2:c.553C>T | XP_016871801.1:p.Arg185Ter | |
| NM_001288989.2:c.1477C>T | NP_001275918.1:p.Arg493Ter | |
| NM_016341.4:c.1477C>T MANE Select | NP_057425.3:p.Arg493Ter |