Linked Data
ClinVar Variation Id:
2891279
ClinVar RCV Id:
RCV003627172
dbSNP Id:
rs935986214
gnomAD v4:
11-46725893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725893C>T , CM000673.2:g.46725893C>T | GRCh38 |
| NC_000011.9:g.46747443C>T , CM000673.1:g.46747443C>T | GRCh37 |
| NC_000011.8:g.46704019C>T | NCBI36 |
| NG_008953.1:g.11701C>T , LRG_551:g.11701C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.594C>T MANE Select | ENSP00000308541.5:p.Arg198= | |
| ENST00000311907.9:c.594C>T | ENSP00000308541.5:p.Arg198= | |
| ENST00000442468.1:c.564C>T | ENSP00000387413.1:p.Arg188= | |
| ENST00000490274.1:n.374C>T | ||
| ENST00000530231.5:c.594C>T | ENSP00000433907.1:p.Arg198= | |
| NM_000506.3:c.594C>T | NP_000497.1:p.Arg198= | |
| NM_000506.4:c.594C>T , LRG_551t1:c.594C>T | NP_000497.1:p.Arg198= | |
| NM_001311257.1:c.546C>T | NP_001298186.1:p.Arg182= | |
| XR_428840.2:n.638C>T | ||
| XR_428840.4:n.629C>T | ||
| NM_000506.5:c.594C>T MANE Select | NP_000497.1:p.Arg198= | |
| NM_001311257.2:c.546C>T | NP_001298186.1:p.Arg182= |