Linked Data
ClinVar Variation Id:
2150839
ClinVar RCV Id:
RCV003071979
dbSNP Id:
rs782278709
gnomAD v2:
22-19164390-G-A
gnomAD v3:
22-19176877-G-A
gnomAD v4:
22-19176877-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176877G>A , CM000684.2:g.19176877G>A | GRCh38 |
| NC_000022.10:g.19164390G>A , CM000684.1:g.19164390G>A | GRCh37 |
| NC_000022.9:g.17544390G>A | NCBI36 |
| NG_033863.1:g.6987C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.600C>T MANE Select | ENSP00000215882.5:p.Phe200= | |
| ENST00000215882.9:c.600C>T | ENSP00000215882.5:p.Phe200= | |
| ENST00000451283.5:c.291C>T | ENSP00000401480.1:p.Phe97= | |
| ENST00000461267.1:n.746C>T | ||
| ENST00000470922.5:n.742C>T | ||
| NM_001256534.1:c.621C>T | NP_001243463.1:p.Phe207= | |
| NM_001287387.1:c.291C>T | NP_001274316.1:p.Phe97= | |
| NM_005984.4:c.600C>T | NP_005975.1:p.Phe200= | |
| NR_046298.2:n.651C>T | ||
| NM_005984.5:c.600C>T MANE Select | NP_005975.1:p.Phe200= | |
| NM_001256534.2:c.621C>T | NP_001243463.1:p.Phe207= | |
| NM_001287387.2:c.291C>T | NP_001274316.1:p.Phe97= | |
| NR_046298.3:n.524C>T |