Linked Data
ClinVar Variation Id:
488677
dbSNP Id:
rs1192396248
gnomAD v3:
2-73572699-C-T
gnomAD v4:
2-73572699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572699C>T , CM000664.2:g.73572699C>T | GRCh38 |
| NC_000002.11:g.73799826C>T , CM000664.1:g.73799826C>T | GRCh37 |
| NC_000002.10:g.73653334C>T | NCBI36 |
| NG_011690.1:g.191947C>T , LRG_741:g.191947C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10441C>T | ENSP00000507671.1:p.Arg3481Ter | |
| ENST00000682801.1:c.10441C>T | ENSP00000507862.1:p.Arg3481Ter | |
| ENST00000682859.1:c.10441C>T | ENSP00000508222.1:p.Arg3481Ter | |
| ENST00000683791.1:c.3527C>T | ||
| ENST00000684460.1:c.7722C>T | ||
| ENST00000684548.1:c.10441C>T | ENSP00000507421.1:p.Arg3481Ter | |
| ENST00000684590.1:c.4888C>T | ENSP00000507376.1:p.Arg1630Ter | |
| ENST00000684656.1:c.7767C>T | ||
| ENST00000613296.6:c.10822C>T MANE Select | ENSP00000482968.1:p.Arg3608Ter | |
| ENST00000651057.1:c.976C>T | ENSP00000498504.1:p.Arg326Ter | |
| ENST00000651434.1:c.2178C>T | ||
| ENST00000651750.1:c.210C>T | ||
| ENST00000652487.1:c.1919C>T | ||
| ENST00000423048.5:c.4313C>T | ENSP00000399833.1:n.4313C>T | |
| ENST00000484298.5:c.10696C>T | ENSP00000478155.1:p.Arg3566Ter | |
| ENST00000613296.4:c.10822C>T | ENSP00000482968.1:p.Arg3608Ter | |
| ENST00000614410.4:c.10822C>T | ENSP00000479094.1:p.Arg3608Ter | |
| ENST00000620466.4:n.4625C>T | ||
| NM_015120.4:c.10825C>T , LRG_741t1:c.10825C>T | NP_055935.4:p.Arg3609Ter | |
| NM_001378454.1:c.10822C>T MANE Select | NP_001365383.1:p.Arg3608Ter |