Linked Data
ClinVar Variation Id:
1184242
ClinVar RCV Id:
RCV001542227
dbSNP Id:
rs387906631
gnomAD v4:
3-128481901-G-C
COSMIC:
COSM5985185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481901G>C , CM000665.2:g.128481901G>C | GRCh38 |
| NC_000003.11:g.128200744G>C , CM000665.1:g.128200744G>C | GRCh37 |
| NC_000003.10:g.129683434G>C | NCBI36 |
| NG_029334.1:g.16287C>G , LRG_295:g.16287C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1061C>G MANE Plus Clinical | ENSP00000417074.1:p.Thr354Arg | |
| ENST00000696466.1:c.1343C>G | ENSP00000512647.1:p.Thr448Arg | |
| ENST00000696672.1:c.44C>G | ENSP00000512796.1:p.Thr15Arg | |
| ENST00000341105.7:c.1061C>G MANE Select | ENSP00000345681.2:p.Thr354Arg | |
| ENST00000341105.6:c.1061C>G | ENSP00000345681.2:p.Thr354Arg | |
| ENST00000430265.6:c.1019C>G | ENSP00000400259.2:p.Thr340Arg | |
| ENST00000487848.5:c.1061C>G | ENSP00000417074.1:p.Thr354Arg | |
| ENST00000489987.1:n.178C>G | ||
| NM_001145661.1:c.1061C>G , LRG_295t1:c.1061C>G | NP_001139133.1:p.Thr354Arg | |
| NM_001145662.1:c.1019C>G | NP_001139134.1:p.Thr340Arg | |
| NM_032638.4:c.1061C>G , LRG_295t2:c.1061C>G | NP_116027.2:p.Thr354Arg | |
| NM_001145661.2:c.1061C>G MANE Plus Clinical | NP_001139133.1:p.Thr354Arg | |
| NM_032638.5:c.1061C>G MANE Select | NP_116027.2:p.Thr354Arg |