Linked Data
ClinVar Variation Id:
376456
dbSNP Id:
rs1057519916
COSMIC:
COSM423430
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11109320T>A , CM000663.2:g.11109320T>A | GRCh38 |
| NC_000001.10:g.11169377T>A , CM000663.1:g.11169377T>A | GRCh37 |
| NC_000001.9:g.11091964T>A | NCBI36 |
| NG_033239.1:g.158232A>T , LRG_734:g.158232A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703118.1:c.*2873A>T | ENSP00000515181.1:n.*2873A>T | |
| ENST00000703131.1:n.3416A>T | ||
| ENST00000703139.1:c.2286A>T | ||
| ENST00000703140.1:c.7285A>T | ENSP00000515197.1:p.Ile2429Phe | |
| ENST00000703141.1:c.*3015A>T | ENSP00000515198.1:n.*3015A>T | |
| ENST00000703142.1:c.*4328A>T | ENSP00000515199.1:n.*4328A>T | |
| ENST00000361445.9:c.7498A>T MANE Select | ENSP00000354558.4:p.Ile2500Phe | |
| ENST00000361445.8:c.7498A>T | ENSP00000354558.4:p.Ile2500Phe | |
| ENST00000376838.5:c.2113A>T | ENSP00000366034.1:p.Ile705Phe | |
| ENST00000455339.1:c.466A>T | ENSP00000398745.1:p.Ile156Phe | |
| ENST00000473471.5:n.510A>T | ||
| ENST00000490931.1:n.781A>T | ||
| NM_004958.3:c.7498A>T , LRG_734t1:c.7498A>T | NP_004949.1:p.Ile2500Phe | |
| XM_005263438.1:c.7498A>T | XP_005263495.1:p.Ile2500Phe | |
| XM_005263438.2:c.7498A>T | XP_005263495.1:p.Ile2500Phe | |
| XM_017000900.1:c.6817A>T | XP_016856389.1:p.Ile2273Phe | |
| XM_017000901.1:c.6250A>T | XP_016856390.1:p.Ile2084Phe | |
| XM_024446187.1:c.7498A>T | XP_024301955.1:p.Ile2500Phe | |
| XR_001737087.1:n.7536A>T | ||
| NM_004958.4:c.7498A>T MANE Select | NP_004949.1:p.Ile2500Phe | |
| NM_001386500.1:c.7498A>T | NP_001373429.1:p.Ile2500Phe | |
| NM_001386501.1:c.6250A>T | NP_001373430.1:p.Ile2084Phe |