Linked Data
ClinVar Variation Id:
200878
ClinVar RCV Id:
RCV000678927
dbSNP Id:
rs1554958092
COSMIC:
COSM5002799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445419G>T , CM000673.2:g.2445419G>T | GRCh38 |
| NC_000011.9:g.2466649G>T , CM000673.1:g.2466649G>T | GRCh37 |
| NC_000011.8:g.2423225G>T | NCBI36 |
| NG_008935.1:g.5429G>T , LRG_287:g.5429G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.60G>T | ENSP00000434560.2:p.Gln20His | |
| ENST00000646564.2:c.321G>T | ENSP00000495806.2:p.Gln107His | |
| ENST00000155840.12:c.321G>T MANE Select | ENSP00000155840.2:p.Gln107His | |
| ENST00000155840.9:c.321G>T | ENSP00000155840.2:p.Gln107His | |
| ENST00000345015.4:n.98G>T | ||
| ENST00000496887.6:c.60G>T | ENSP00000434560.1:p.Gln20His | |
| NM_000218.2:c.321G>T , LRG_287t1:c.321G>T | NP_000209.2:p.Gln107His | |
| NM_000218.3:c.321G>T MANE Select | NP_000209.2:p.Gln107His |