Linked Data
ClinVar Variation Id:
3177568
ClinVar RCV Id:
RCV004469890
dbSNP Id:
rs767347267
ExAC:
3:119232488 C / G
gnomAD v2:
3-119232488-C-G
gnomAD v3:
3-119513641-C-G
gnomAD v4:
3-119513641-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119513641C>G , CM000665.2:g.119513641C>G | GRCh38 |
| NC_000003.11:g.119232488C>G , CM000665.1:g.119232488C>G | GRCh37 |
| NC_000003.10:g.120715178C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494664.6:c.518C>G MANE Select | ENSP00000418803.1:p.Ala173Gly | |
| ENST00000264244.7:c.518-3564C>G | ENSP00000264244.3:n.518-3564C>G | |
| ENST00000463927.6:c.*178-3564C>G | ENSP00000417205.2:n.*178-3564C>G | |
| ENST00000466984.1:c.263C>G | ENSP00000420122.1:p.Ala88Gly | |
| ENST00000469324.1:n.556C>G | ||
| ENST00000486418.5:c.195C>G | ENSP00000417083.1:p.Asp65Glu | |
| ENST00000492164.5:c.*79C>G | ENSP00000418846.1:n.*79C>G | |
| ENST00000493694.1:c.195-3564C>G | ENSP00000419510.1:n.195-3564C>G | |
| ENST00000494664.5:c.518C>G | ENSP00000418803.1:p.Ala173Gly | |
| ENST00000498399.1:c.118-3564C>G | ||
| NM_016589.3:c.518C>G | NP_057673.2:p.Ala173Gly | |
| XM_017006556.1:c.195-3564C>G | XP_016862045.1:n.195-3564C>G | |
| NM_016589.4:c.518C>G MANE Select | NP_057673.2:p.Ala173Gly |