Linked Data
ClinVar Variation Id:
404088
dbSNP Id:
rs370164300
ExAC:
3:128199957 C / T
gnomAD v2:
3-128199957-C-T
gnomAD v3:
3-128481114-C-T
gnomAD v4:
3-128481114-C-T
COSMIC:
COSM1037983
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481114C>T , CM000665.2:g.128481114C>T | GRCh38 |
| NC_000003.11:g.128199957C>T , CM000665.1:g.128199957C>T | GRCh37 |
| NC_000003.10:g.129682647C>T | NCBI36 |
| NG_029334.1:g.17074G>A , LRG_295:g.17074G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000487848.6:c.1348G>A MANE Plus Clinical | ENSP00000417074.1:p.Gly450Arg | |
| ENST00000696466.1:c.1630G>A | ENSP00000512647.1:p.Gly544Arg | |
| ENST00000696672.1:c.323G>A | ENSP00000512796.1:p.Arg108Gln | |
| ENST00000341105.7:c.1348G>A MANE Select | ENSP00000345681.2:p.Gly450Arg | |
| ENST00000341105.6:c.1348G>A | ENSP00000345681.2:p.Gly450Arg | |
| ENST00000430265.6:c.1306G>A | ENSP00000400259.2:p.Gly436Arg | |
| ENST00000487848.5:c.1348G>A | ENSP00000417074.1:p.Gly450Arg | |
| ENST00000489987.1:n.465G>A | ||
| NM_001145661.1:c.1348G>A , LRG_295t1:c.1348G>A | NP_001139133.1:p.Gly450Arg | |
| NM_001145662.1:c.1306G>A | NP_001139134.1:p.Gly436Arg | |
| NM_032638.4:c.1348G>A , LRG_295t2:c.1348G>A | NP_116027.2:p.Gly450Arg | |
| NM_001145661.2:c.1348G>A MANE Plus Clinical | NP_001139133.1:p.Gly450Arg | |
| NM_032638.5:c.1348G>A MANE Select | NP_116027.2:p.Gly450Arg |