Linked Data
dbSNP Id:
rs1338689960
gnomAD v2:
18-22057196-A-T
gnomAD v4:
18-24477232-A-T
COSMIC:
COSM5499933
MyVariant Identifiers:
chr18:g.22057196A>T (hg19)
chr18:g.22057196_22057197delinsTT (hg19)
chr18:g.24477232A>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477232A>T , CM000680.2:g.24477232A>T | GRCh38 |
| NC_000018.9:g.22057196A>T , CM000680.1:g.22057196A>T | GRCh37 |
| NC_000018.8:g.20311194A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.843A>T MANE Select | ENSP00000256906.4:p.Gln281His | |
| ENST00000256906.4:c.843A>T | ENSP00000256906.4:p.Gln281His | |
| ENST00000426880.2:c.579A>T | ENSP00000402526.2:p.Gln193His | |
| NM_001143828.1:c.579A>T | NP_001137300.1:p.Gln193His | |
| NM_001160166.1:c.*475A>T | NP_001153638.1:n.*475A>T | |
| NM_021624.3:c.843A>T | NP_067637.2:p.Gln281His | |
| XM_011526133.1:c.357+8281A>T | XP_011524435.1:n.357+8281A>T | |
| NM_021624.4:c.843A>T MANE Select | NP_067637.2:p.Gln281His | |
| NM_001143828.2:c.579A>T | NP_001137300.1:p.Gln193His | |
| NM_001160166.2:c.*475A>T | NP_001153638.1:n.*475A>T |