Linked Data
ClinVar Variation Id:
2742462
ClinVar RCV Id:
RCV003531661
dbSNP Id:
rs1426799911
gnomAD v3:
15-66703287-T-G
gnomAD v4:
15-66703287-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703287T>G , CM000677.2:g.66703287T>G | GRCh38 |
| NC_000015.9:g.66995625T>G , CM000677.1:g.66995625T>G | GRCh37 |
| NC_000015.8:g.64782679T>G | NCBI36 |
| NG_012244.1:g.5952T>G | |
| NG_012244.2:g.5952T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.29T>G MANE Select | ENSP00000288840.5:p.Val10Gly | |
| ENST00000288840.9:c.29T>G | ENSP00000288840.5:p.Val10Gly | |
| ENST00000557916.5:c.29T>G | ENSP00000452955.1:p.Val10Gly | |
| ENST00000612349.1:n.211T>G | ||
| NM_005585.4:c.29T>G | NP_005576.3:p.Val10Gly | |
| NR_027654.1:n.952T>G | ||
| XR_931825.1:n.1188T>G | ||
| XR_931826.1:n.1188T>G | ||
| XR_931827.1:n.1188T>G | ||
| XR_931827.2:n.1178T>G | ||
| NM_005585.5:c.29T>G MANE Select | NP_005576.3:p.Val10Gly | |
| NR_027654.2:n.1052T>G |