Linked Data
ClinVar Variation Id:
1403890
ClinVar RCV Id:
RCV001901360
dbSNP Id:
rs759123826
ExAC:
10:124268252 G / T
gnomAD v2:
10-124268252-G-T
gnomAD v3:
10-122508736-G-T
gnomAD v4:
10-122508736-G-T
COSMIC:
COSM4573438
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508736G>T , CM000672.2:g.122508736G>T | GRCh38 |
| NC_000010.10:g.124268252G>T , CM000672.1:g.124268252G>T | GRCh37 |
| NC_000010.9:g.124258242G>T | NCBI36 |
| NG_011554.1:g.52212G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1086G>T MANE Select | ENSP00000357980.3:p.Lys362Asn | |
| ENST00000648167.1:c.768G>T | ENSP00000498033.1:p.Lys256Asn | |
| ENST00000368984.7:c.1086G>T | ENSP00000357980.3:p.Lys362Asn | |
| ENST00000420892.1:c.309G>T | ENSP00000412676.1:p.Lys103Asn | |
| NM_002775.4:c.1086G>T | NP_002766.1:p.Lys362Asn | |
| NM_002775.5:c.1086G>T MANE Select | NP_002766.1:p.Lys362Asn |