Linked Data
ClinVar Variation Id:
426158
ClinVar RCV Id:
RCV000489389
dbSNP Id:
rs1085307477
COSMIC:
COSM3833516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94424444G>A , CM000669.2:g.94424444G>A | GRCh38 |
| NC_000007.13:g.94053756G>A , CM000669.1:g.94053756G>A | GRCh37 |
| NC_000007.12:g.93891692G>A | NCBI36 |
| NG_007405.1:g.34884G>A , LRG_2:g.34884G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.2673+1G>A MANE Select | ENSP00000297268.6:n.2673+1G>A | |
| ENST00000297268.10:c.2673+1G>A | ENSP00000297268.6:n.2673+1G>A | |
| ENST00000469732.1:n.456+1G>A | ||
| ENST00000481570.5:n.1974G>A | ||
| ENST00000620463.1:c.2667+1G>A | ENSP00000477719.1:n.2667+1G>A | |
| NM_000089.3:c.2673+1G>A , LRG_2t1:c.2673+1G>A | NP_000080.2:n.2673+1G>A | |
| NM_000089.4:c.2673+1G>A MANE Select | NP_000080.2:n.2673+1G>A |