Linked Data
ClinVar Variation Id:
452920
ClinVar RCV Id:
RCV000519431
dbSNP Id:
rs1173369484
gnomAD v2:
12-57423586-C-T
gnomAD v3:
12-57029802-C-T
gnomAD v4:
12-57029802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57029802C>T , CM000674.2:g.57029802C>T | GRCh38 |
| NC_000012.11:g.57423586C>T , CM000674.1:g.57423586C>T | GRCh37 |
| NC_000012.10:g.55709853C>T | NCBI36 |
| NG_012104.1:g.25308G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300119.8:c.2662G>A MANE Select | ENSP00000300119.3:p.Gly888Arg | |
| ENST00000300119.7:c.2662G>A | ENSP00000300119.3:p.Gly888Arg | |
| ENST00000442789.6:c.2662G>A | ENSP00000393392.2:p.Gly888Arg | |
| ENST00000477864.1:n.225G>A | ||
| ENST00000554234.5:c.*107G>A | ENSP00000451033.1:n.*107G>A | |
| NM_001256041.1:c.2662G>A | NP_001242970.1:p.Gly888Arg | |
| NM_005379.3:c.2662G>A | NP_005370.1:p.Gly888Arg | |
| NM_005379.4:c.2662G>A MANE Select | NP_005370.1:p.Gly888Arg | |
| NM_001256041.2:c.2662G>A | NP_001242970.1:p.Gly888Arg |