Linked Data
ClinVar Variation Id:
292907
ClinVar RCV Id:
RCV000305597
dbSNP Id:
rs768414501
ExAC:
1:15766837 G / A
gnomAD v2:
1-15766837-G-A
gnomAD v3:
1-15440341-G-A
gnomAD v4:
1-15440341-G-A
COSMIC:
COSM1335135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15440341G>A , CM000663.2:g.15440341G>A | GRCh38 |
| NC_000001.10:g.15766837G>A , CM000663.1:g.15766837G>A | GRCh37 |
| NC_000001.9:g.15639424G>A | NCBI36 |
| NG_009253.1:g.6900G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.82G>A MANE Select | ENSP00000365116.4:p.Ala28Thr | |
| ENST00000375943.6:c.40+1837G>A | ENSP00000365110.2:n.40+1837G>A | |
| ENST00000375949.4:c.82G>A | ENSP00000365116.4:p.Ala28Thr | |
| ENST00000476813.5:n.52+1837G>A | ||
| NM_007272.2:c.82G>A | NP_009203.2:p.Ala28Thr | |
| XM_011540550.1:c.82G>A | XP_011538852.1:p.Ala28Thr | |
| NM_007272.3:c.82G>A MANE Select | NP_009203.2:p.Ala28Thr |