Linked Data
ClinVar Variation Id:
5940
ClinVar RCV Id:
RCV000006303
dbSNP Id:
rs121908543
gnomAD v4:
3-190409949-T-G
PubMed:
PMID:16705067
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190409949T>G , CM000665.2:g.190409949T>G | GRCh38 |
| NC_000003.11:g.190127738T>G , CM000665.1:g.190127738T>G | GRCh37 |
| NC_000003.10:g.191610432T>G | NCBI36 |
| NG_008149.1:g.26898T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.621T>G MANE Select | ENSP00000264734.3:p.Tyr207Ter | |
| ENST00000456423.2:c.*11T>G | ENSP00000414136.2:n.*11T>G | |
| ENST00000264734.2:c.831T>G | ENSP00000264734.2:p.Tyr277Ter | |
| ENST00000456423.1:c.371T>G | ENSP00000414136.1:n.371T>G | |
| NM_006580.3:c.831T>G | NP_006571.1:p.Tyr277Ter | |
| NM_001378492.1:c.621T>G | NP_001365421.1:p.Tyr207Ter | |
| NM_001378493.1:c.621T>G | NP_001365422.1:p.Tyr207Ter | |
| NM_006580.4:c.621T>G MANE Select | NP_006571.2:p.Tyr207Ter |