Linked Data
ClinVar Variation Id:
376453
ClinVar RCV Id:
RCV000422764
RCV000433466
RCV000441728
RCV001836816
RCV001260505
RCV001861478
RCV003992287
dbSNP Id:
rs786205165
COSMIC:
COSM462615
CIViC:
CA16602888
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11157173C>T , CM000663.2:g.11157173C>T | GRCh38 |
| NC_000001.10:g.11217230C>T , CM000663.1:g.11217230C>T | GRCh37 |
| NC_000001.9:g.11139817C>T | NCBI36 |
| NG_033239.1:g.110379G>A , LRG_734:g.110379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.4448G>A | ENSP00000515181.1:p.Cys1483Tyr | |
| ENST00000703131.1:n.368G>A | ||
| ENST00000703140.1:c.4235G>A | ENSP00000515197.1:p.Cys1412Tyr | |
| ENST00000703141.1:c.4448G>A | ENSP00000515198.1:p.Cys1483Tyr | |
| ENST00000703142.1:c.*1278G>A | ENSP00000515199.1:n.*1278G>A | |
| ENST00000361445.9:c.4448G>A MANE Select | ENSP00000354558.4:p.Cys1483Tyr | |
| ENST00000361445.8:c.4448G>A | ENSP00000354558.4:p.Cys1483Tyr | |
| NM_004958.3:c.4448G>A , LRG_734t1:c.4448G>A | NP_004949.1:p.Cys1483Tyr | |
| XM_005263438.1:c.4448G>A | XP_005263495.1:p.Cys1483Tyr | |
| XM_011541166.1:c.4448G>A | XP_011539468.1:p.Cys1483Tyr | |
| XR_244786.1:n.4569G>A | ||
| XM_005263438.2:c.4448G>A | XP_005263495.1:p.Cys1483Tyr | |
| XM_011541166.2:c.4448G>A | XP_011539468.1:p.Cys1483Tyr | |
| XM_017000900.1:c.3767G>A | XP_016856389.1:p.Cys1256Tyr | |
| XM_017000901.1:c.3200G>A | XP_016856390.1:p.Cys1067Tyr | |
| XM_024446187.1:c.4448G>A | XP_024301955.1:p.Cys1483Tyr | |
| XR_001737087.1:n.4569G>A | ||
| NM_004958.4:c.4448G>A MANE Select | NP_004949.1:p.Cys1483Tyr | |
| NM_001386500.1:c.4448G>A | NP_001373429.1:p.Cys1483Tyr | |
| NM_001386501.1:c.3200G>A | NP_001373430.1:p.Cys1067Tyr |