Linked Data
ClinVar Variation Id:
2193217
ClinVar RCV Id:
RCV002643939
dbSNP Id:
rs1028413835
gnomAD v4:
2-73490204-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73490204G>A , CM000664.2:g.73490204G>A | GRCh38 |
| NC_000002.11:g.73717331G>A , CM000664.1:g.73717331G>A | GRCh37 |
| NC_000002.10:g.73570839G>A | NCBI36 |
| NG_011690.1:g.109452G>A , LRG_741:g.109452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7864G>A | ENSP00000507671.1:p.Val2622Ile | |
| ENST00000682801.1:c.7864G>A | ENSP00000507862.1:p.Val2622Ile | |
| ENST00000682859.1:c.7864G>A | ENSP00000508222.1:p.Val2622Ile | |
| ENST00000683791.1:c.1256G>A | ||
| ENST00000684460.1:c.5316G>A | ||
| ENST00000684548.1:c.7864G>A | ENSP00000507421.1:p.Val2622Ile | |
| ENST00000684590.1:c.2311G>A | ENSP00000507376.1:p.Val771Ile | |
| ENST00000684656.1:c.5316G>A | ||
| ENST00000613296.6:c.8245G>A MANE Select | ENSP00000482968.1:p.Val2749Ile | |
| ENST00000651434.1:c.896-29571G>A | ||
| ENST00000423048.5:c.3030+46G>A | ENSP00000399833.1:n.3030+46G>A | |
| ENST00000484298.5:c.8119G>A | ENSP00000478155.1:p.Val2707Ile | |
| ENST00000613296.4:c.8245G>A | ENSP00000482968.1:p.Val2749Ile | |
| ENST00000614410.4:c.8245G>A | ENSP00000479094.1:p.Val2749Ile | |
| ENST00000620466.4:n.2048G>A | ||
| NM_015120.4:c.8248G>A , LRG_741t1:c.8248G>A | NP_055935.4:p.Val2750Ile | |
| NM_001378454.1:c.8245G>A MANE Select | NP_001365383.1:p.Val2749Ile |