Linked Data
ClinVar Variation Id:
2962020
ClinVar RCV Id:
RCV003822666
dbSNP Id:
rs773742878
gnomAD v2:
17-15903249-C-G
gnomAD v3:
17-15999935-C-G
gnomAD v4:
17-15999935-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999935C>G , CM000679.2:g.15999935C>G | GRCh38 |
| NC_000017.10:g.15903249C>G , CM000679.1:g.15903249C>G | GRCh37 |
| NC_000017.9:g.15843974C>G | NCBI36 |
| NG_029806.1:g.5556C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.87C>G MANE Select | ENSP00000261647.5:p.Leu29= | |
| ENST00000261647.9:c.87C>G | ENSP00000261647.5:p.Leu29= | |
| ENST00000466729.5:c.152C>G | ||
| ENST00000470399.1:c.102C>G | ENSP00000465082.1:p.Leu34= | |
| ENST00000475723.5:c.134C>G | ||
| ENST00000497842.6:n.112C>G | ||
| ENST00000583704.1:n.112C>G | ||
| NM_001271420.1:c.-372C>G | NP_001258349.1:n.-372C>G | |
| NM_017775.3:c.87C>G | NP_060245.3:p.Leu29= | |
| XM_011523950.1:c.87C>G | XP_011522252.1:p.Leu29= | |
| XM_017024801.2:c.87C>G | XP_016880290.2:p.Leu29= | |
| XM_017024802.2:c.87C>G | XP_016880291.2:p.Leu29= | |
| XM_024450814.1:c.87C>G | XP_024306582.1:p.Leu29= | |
| NM_017775.4:c.87C>G MANE Select | NP_060245.3:p.Leu29= | |
| NM_001271420.2:c.-372C>G | NP_001258349.1:n.-372C>G |