Linked Data
ClinVar Variation Id:
1672
ClinVar RCV Id:
RCV000001739
dbSNP Id:
rs118204010
PubMed:
PMID:12050193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764148G>C , CM000674.2:g.57764148G>C | GRCh38 |
| NC_000012.11:g.58157931G>C , CM000674.1:g.58157931G>C | GRCh37 |
| NC_000012.10:g.56444198G>C | NCBI36 |
| NG_007076.1:g.8046C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1246C>G | ENSP00000518840.1:p.Arg416Gly | |
| ENST00000713545.1:c.*170C>G | ENSP00000518841.1:n.*170C>G | |
| ENST00000228606.9:c.1165C>G MANE Select | ENSP00000228606.4:p.Arg389Gly | |
| ENST00000228606.8:c.1165C>G | ENSP00000228606.4:p.Arg389Gly | |
| ENST00000546567.5:c.460C>G | ENSP00000449472.1:p.Arg154Gly | |
| ENST00000547344.5:n.1304C>G | ||
| NM_000785.3:c.1165C>G | NP_000776.1:p.Arg389Gly | |
| NM_000785.4:c.1165C>G MANE Select | NP_000776.1:p.Arg389Gly |