Linked Data
ClinVar Variation Id:
434136
dbSNP Id:
rs1473611414
gnomAD v2:
2-73799886-C-T
gnomAD v4:
2-73572759-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572759C>T , CM000664.2:g.73572759C>T | GRCh38 |
| NC_000002.11:g.73799886C>T , CM000664.1:g.73799886C>T | GRCh37 |
| NC_000002.10:g.73653394C>T | NCBI36 |
| NG_011690.1:g.192007C>T , LRG_741:g.192007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10501C>T | ENSP00000507671.1:p.Arg3501Ter | |
| ENST00000682801.1:c.10501C>T | ENSP00000507862.1:p.Arg3501Ter | |
| ENST00000682859.1:c.10501C>T | ENSP00000508222.1:p.Arg3501Ter | |
| ENST00000683791.1:c.3587C>T | ||
| ENST00000684460.1:c.7782C>T | ||
| ENST00000684548.1:c.10501C>T | ENSP00000507421.1:p.Arg3501Ter | |
| ENST00000684590.1:c.4948C>T | ENSP00000507376.1:p.Arg1650Ter | |
| ENST00000684656.1:c.7827C>T | ||
| ENST00000613296.6:c.10882C>T MANE Select | ENSP00000482968.1:p.Arg3628Ter | |
| ENST00000651057.1:c.1036C>T | ENSP00000498504.1:p.Arg346Ter | |
| ENST00000651434.1:c.2238C>T | ||
| ENST00000651750.1:c.270C>T | ||
| ENST00000652487.1:c.1979C>T | ||
| ENST00000423048.5:c.4373C>T | ENSP00000399833.1:n.4373C>T | |
| ENST00000484298.5:c.10756C>T | ENSP00000478155.1:p.Arg3586Ter | |
| ENST00000613296.4:c.10882C>T | ENSP00000482968.1:p.Arg3628Ter | |
| ENST00000614410.4:c.10882C>T | ENSP00000479094.1:p.Arg3628Ter | |
| ENST00000620466.4:n.4685C>T | ||
| NM_015120.4:c.10885C>T , LRG_741t1:c.10885C>T | NP_055935.4:p.Arg3629Ter | |
| NM_001378454.1:c.10882C>T MANE Select | NP_001365383.1:p.Arg3628Ter |