Linked Data
ClinVar Variation Id:
36129
dbSNP Id:
rs193922244
ExAC:
15:48703492 C / T
gnomAD v2:
15-48703492-C-T
gnomAD v3:
15-48411295-C-T
gnomAD v4:
15-48411295-C-T
COSMIC:
COSM1252195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411295C>T , CM000677.2:g.48411295C>T | GRCh38 |
| NC_000015.9:g.48703492C>T , CM000677.1:g.48703492C>T | GRCh37 |
| NC_000015.8:g.46490784C>T | NCBI36 |
| NG_008805.2:g.239494G>A , LRG_778:g.239494G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1119G>A | ENSP00000453958.2:n.*1119G>A | |
| ENST00000674301.2:c.*1824G>A | ENSP00000501333.2:n.*1824G>A | |
| ENST00000682158.1:n.1692G>A | ||
| ENST00000682170.1:n.2492G>A | ||
| ENST00000682767.1:n.1608G>A | ||
| ENST00000316623.10:c.8311G>A MANE Select | ENSP00000325527.5:p.Val2771Ile | |
| ENST00000674301.1:c.3477G>A | ENSP00000501333.1:n.3477G>A | |
| ENST00000316623.9:c.8311G>A | ENSP00000325527.5:p.Val2771Ile | |
| ENST00000559133.5:c.3680G>A | ||
| ENST00000561429.1:n.566G>A | ||
| NM_000138.4:c.8311G>A , LRG_778t1:c.8311G>A | NP_000129.3:p.Val2771Ile | |
| NM_000138.5:c.8311G>A MANE Select | NP_000129.3:p.Val2771Ile |