Linked Data
ClinVar Variation Id:
402911
dbSNP Id:
rs2280738
ExAC:
15:33023098 C / G
gnomAD v2:
15-33023098-C-G
gnomAD v3:
15-32730897-C-G
gnomAD v4:
15-32730897-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.32730897C>G , CM000677.2:g.32730897C>G | GRCh38 |
| NC_000015.9:g.33023098C>G , CM000677.1:g.33023098C>G | GRCh37 |
| NC_000015.8:g.30810390C>G | NCBI36 |
| NG_033791.1:g.17894C>G | |
| NG_033791.2:g.17894C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651154.1:c.207C>G MANE Select | ENSP00000498748.1:p.Pro69= | |
| ENST00000652365.1:c.207C>G | ENSP00000498763.1:p.Pro69= | |
| ENST00000560677.5:c.105-19C>G | ENSP00000453387.1:n.105-19C>G | |
| ENST00000560830.1:c.115-31C>G | ENSP00000453141.1:n.115-31C>G | |
| ENST00000622074.1:c.207C>G | ENSP00000478319.1:p.Pro69= | |
| NM_001191322.1:c.28-31C>G | NP_001178251.1:n.28-31C>G | |
| NM_001191323.1:c.115-31C>G | NP_001178252.1:n.115-31C>G | |
| NM_013372.6:c.207C>G | NP_037504.1:p.Pro69= | |
| XM_005254301.1:c.375C>G | XP_005254358.1:p.Pro125= | |
| XM_017022077.1:c.318C>G | XP_016877566.1:p.Pro106= | |
| NM_013372.7:c.207C>G MANE Select | NP_037504.1:p.Pro69= | |
| NM_001191322.2:c.28-31C>G | NP_001178251.1:n.28-31C>G | |
| NM_001191323.2:c.115-31C>G | NP_001178252.1:n.115-31C>G | |
| NM_001368719.1:c.207C>G | NP_001355648.1:p.Pro69= |