Linked Data
ClinVar Variation Id:
405515
ClinVar RCV Id:
RCV000471439
dbSNP Id:
rs946785791
gnomAD v2:
15-66995631-G-A
gnomAD v3:
15-66703293-G-A
gnomAD v4:
15-66703293-G-A
COSMIC:
COSM1678548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703293G>A , CM000677.2:g.66703293G>A | GRCh38 |
| NC_000015.9:g.66995631G>A , CM000677.1:g.66995631G>A | GRCh37 |
| NC_000015.8:g.64782685G>A | NCBI36 |
| NG_012244.1:g.5958G>A | |
| NG_012244.2:g.5958G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288840.10:c.35G>A MANE Select | ENSP00000288840.5:p.Arg12Gln | |
| ENST00000288840.9:c.35G>A | ENSP00000288840.5:p.Arg12Gln | |
| ENST00000557916.5:c.35G>A | ENSP00000452955.1:p.Arg12Gln | |
| ENST00000612349.1:n.217G>A | ||
| NM_005585.4:c.35G>A | NP_005576.3:p.Arg12Gln | |
| NR_027654.1:n.958G>A | ||
| XR_931825.1:n.1194G>A | ||
| XR_931826.1:n.1194G>A | ||
| XR_931827.1:n.1194G>A | ||
| XR_931827.2:n.1184G>A | ||
| NM_005585.5:c.35G>A MANE Select | NP_005576.3:p.Arg12Gln | |
| NR_027654.2:n.1058G>A |