Linked Data
ClinVar Variation Id:
376439
dbSNP Id:
rs1057519906
COSMIC:
COSM33731
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088607T>C , CM000677.2:g.90088607T>C | GRCh38 |
| NC_000015.9:g.90631839T>C , CM000677.1:g.90631839T>C | GRCh37 |
| NC_000015.8:g.88432843T>C | NCBI36 |
| NG_023302.1:g.18870A>G , LRG_611:g.18870A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330062.8:c.514A>G MANE Select | ENSP00000331897.4:p.Arg172Gly | |
| ENST00000330062.7:c.514A>G | ENSP00000331897.3:p.Arg172Gly | |
| ENST00000540499.2:c.358A>G | ENSP00000446147.2:p.Arg120Gly | |
| ENST00000559482.5:c.208-105A>G | ENSP00000453016.1:n.208-105A>G | |
| ENST00000560061.1:c.*139A>G | ENSP00000453254.1:n.*139A>G | |
| NM_001289910.1:c.358A>G , LRG_611t1:c.358A>G | NP_001276839.1:p.Arg120Gly | |
| NM_001290114.1:c.124A>G | NP_001277043.1:p.Arg42Gly | |
| NM_002168.3:c.514A>G , LRG_611t2:c.514A>G | NP_002159.2:p.Arg172Gly | |
| NM_001290114.2:c.124A>G | NP_001277043.1:p.Arg42Gly | |
| NM_002168.4:c.514A>G MANE Select | NP_002159.2:p.Arg172Gly |