Linked Data
ClinVar Variation Id:
223225
dbSNP Id:
rs397516444
COSMIC:
COSM14408
PCER:
P-CER:CA357010/193300
CIViC:
CA357010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149808G>A , CM000665.2:g.10149808G>A | GRCh38 |
| NC_000003.11:g.10191492G>A , CM000665.1:g.10191492G>A | GRCh37 |
| NC_000003.10:g.10166492G>A | NCBI36 |
| NG_008212.3:g.13174G>A , LRG_322:g.13174G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*162G>A | ENSP00000512434.1:n.*162G>A | |
| ENST00000696143.1:c.621G>A | ENSP00000512435.1:n.621G>A | |
| ENST00000696153.1:c.596G>A | ENSP00000512444.1:p.Cys199Tyr | |
| ENST00000256474.3:c.485G>A MANE Select | ENSP00000256474.3:p.Cys162Tyr | |
| ENST00000256474.2:c.485G>A | ENSP00000256474.2:p.Cys162Tyr | |
| ENST00000345392.2:c.362G>A | ENSP00000344757.2:p.Cys121Tyr | |
| ENST00000477538.1:n.621G>A | ||
| NM_000551.3:c.485G>A , LRG_322t1:c.485G>A | NP_000542.1:p.Cys162Tyr | |
| NM_198156.2:c.362G>A | NP_937799.1:p.Cys121Tyr | |
| NM_001354723.1:c.*39G>A | NP_001341652.1:n.*39G>A | |
| NM_000551.4:c.485G>A MANE Select | NP_000542.1:p.Cys162Tyr | |
| NM_001354723.2:c.*39G>A | NP_001341652.1:n.*39G>A | |
| NM_198156.3:c.362G>A | NP_937799.1:p.Cys121Tyr |