Linked Data
ClinVar Variation Id:
2929852
ClinVar RCV Id:
RCV003785018
dbSNP Id:
rs1201453280
gnomAD v2:
3-49162446-G-C
gnomAD v3:
3-49125013-G-C
gnomAD v4:
3-49125013-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125013G>C , CM000665.2:g.49125013G>C | GRCh38 |
| NC_000003.11:g.49162446G>C , CM000665.1:g.49162446G>C | GRCh37 |
| NC_000003.10:g.49137450G>C | NCBI36 |
| NG_008094.1:g.13154C>G | |
| NG_054716.1:g.926C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.2877C>G MANE Select | ENSP00000307156.4:p.Gly959= | |
| ENST00000305544.8:c.2877C>G | ENSP00000307156.4:p.Gly959= | |
| ENST00000418109.5:c.2877C>G | ENSP00000388325.1:p.Gly959= | |
| ENST00000462930.5:n.284C>G | ||
| ENST00000464891.5:n.610C>G | ||
| ENST00000483057.1:n.477C>G | ||
| ENST00000486298.5:n.582C>G | ||
| ENST00000542580.1:n.192C>G | ||
| NM_002292.3:c.2877C>G | NP_002283.3:p.Gly959= | |
| XM_005265127.3:c.2877C>G | XP_005265184.1:p.Gly959= | |
| XM_005265127.4:c.2877C>G | XP_005265184.1:p.Gly959= | |
| NM_002292.4:c.2877C>G MANE Select | NP_002283.3:p.Gly959= |