Linked Data
ClinVar Variation Id:
8117
ClinVar RCV Id:
RCV000008586
dbSNP Id:
rs121918347
COSMIC:
COSM13146
CIViC:
CA119302
PubMed:
PMID:9422511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.129210500G>T , CM000669.2:g.129210500G>T | GRCh38 |
| NC_000007.13:g.128850341G>T , CM000669.1:g.128850341G>T | GRCh37 |
| NC_000007.12:g.128637577G>T | NCBI36 |
| NG_023340.1:g.26629G>T | |
| NG_023340.2:g.26629G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249373.8:c.1604G>T MANE Select | ENSP00000249373.3:p.Trp535Leu | |
| ENST00000655644.1:c.*1359G>T | ENSP00000499377.1:n.*1359G>T | |
| ENST00000249373.7:c.1604G>T | ENSP00000249373.3:p.Trp535Leu | |
| ENST00000462420.2:c.575G>T | ||
| NM_005631.4:c.1604G>T | NP_005622.1:p.Trp535Leu | |
| XM_011516522.1:c.1214G>T | XP_011514824.1:p.Trp405Leu | |
| XM_024446891.1:c.1214G>T | XP_024302659.1:p.Trp405Leu | |
| NM_005631.5:c.1604G>T MANE Select | NP_005622.1:p.Trp535Leu |