Linked Data
ClinVar Variation Id:
6344
ClinVar RCV Id:
RCV000006716
dbSNP Id:
rs104894222
PubMed:
PMID:10615118
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625484G>C , CM000673.2:g.22625484G>C | GRCh38 |
| NC_000011.9:g.22647030G>C , CM000673.1:g.22647030G>C | GRCh37 |
| NC_000011.8:g.22603606G>C | NCBI36 |
| NG_007425.1:g.5358C>G , LRG_527:g.5358C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.327C>G MANE Select | ENSP00000330875.3:p.Tyr109Ter | |
| ENST00000327470.4:c.327C>G | ENSP00000330875.3:p.Tyr109Ter | |
| NM_022725.3:c.327C>G , LRG_527t1:c.327C>G | NP_073562.1:p.Tyr109Ter | |
| NM_022725.4:c.327C>G MANE Select | NP_073562.1:p.Tyr109Ter |