Linked Data
ClinVar Variation Id:
1333424
ClinVar RCV Id:
RCV001808112
dbSNP Id:
rs2150570235
gnomAD v4:
6-30925292-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30925292G>T , CM000668.2:g.30925292G>T | GRCh38 |
| NC_000006.11:g.30893069G>T , CM000668.1:g.30893069G>T | GRCh37 |
| NC_000006.10:g.31001048G>T | NCBI36 |
| NG_034224.1:g.16085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.2692G>T | ENSP00000441000.2:p.Glu898Ter | |
| ENST00000672801.1:c.2686G>T | ENSP00000500615.1:p.Glu896Ter | |
| ENST00000676266.1:c.2692G>T MANE Select | ENSP00000502585.1:p.Glu898Ter | |
| ENST00000321897.9:c.2692G>T | ENSP00000316092.5:p.Glu898Ter | |
| ENST00000469358.5:n.2680G>T | ||
| ENST00000473916.1:n.1251G>T | ||
| ENST00000476162.5:n.1479G>T | ||
| ENST00000477288.5:n.5305G>T | ||
| ENST00000541562.5:c.2782G>T | ENSP00000441000.1:p.Glu928Ter | |
| ENST00000542001.5:c.2686G>T | ENSP00000438200.2:p.Glu896Ter | |
| ENST00000625423.2:c.2272G>T | ENSP00000485818.1:p.Glu758Ter | |
| NM_001167733.2:c.2272G>T | NP_001161205.1:p.Glu758Ter | |
| NM_001167734.1:c.2782G>T | NP_001161206.1:p.Glu928Ter | |
| NM_020442.5:c.2692G>T | NP_065175.4:p.Glu898Ter | |
| NM_001167733.3:c.2272G>T | NP_001161205.1:p.Glu758Ter | |
| NM_001167734.2:c.2782G>T | NP_001161206.1:p.Glu928Ter | |
| NM_020442.6:c.2692G>T MANE Select | NP_065175.4:p.Glu898Ter |