Linked Data
dbSNP Id:
rs1555922223
gnomAD v2:
22-19163733-G-A
gnomAD v4:
22-19176220-G-A
COSMIC:
COSM1414860
MyVariant Identifiers:
chr22:g.19163733G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176220G>A , CM000684.2:g.19176220G>A | GRCh38 |
| NC_000022.10:g.19163733G>A , CM000684.1:g.19163733G>A | GRCh37 |
| NC_000022.9:g.17543733G>A | NCBI36 |
| NG_033863.1:g.7644C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.846C>T MANE Select | ENSP00000215882.5:p.Arg282= | |
| ENST00000215882.9:c.846C>T | ENSP00000215882.5:p.Arg282= | |
| ENST00000451283.5:c.537C>T | ENSP00000401480.1:p.Arg179= | |
| ENST00000470922.5:n.988C>T | ||
| NM_001256534.1:c.867C>T | NP_001243463.1:p.Arg289= | |
| NM_001287387.1:c.537C>T | NP_001274316.1:p.Arg179= | |
| NM_005984.4:c.846C>T | NP_005975.1:p.Arg282= | |
| NR_046298.2:n.897C>T | ||
| NM_005984.5:c.846C>T MANE Select | NP_005975.1:p.Arg282= | |
| NM_001256534.2:c.867C>T | NP_001243463.1:p.Arg289= | |
| NM_001287387.2:c.537C>T | NP_001274316.1:p.Arg179= | |
| NR_046298.3:n.770C>T |