Linked Data
dbSNP Id:
rs781853107
ExAC:
22:19164415 C / T
gnomAD v2:
22-19164415-C-T
gnomAD v4:
22-19176902-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176902C>T , CM000684.2:g.19176902C>T | GRCh38 |
| NC_000022.10:g.19164415C>T , CM000684.1:g.19164415C>T | GRCh37 |
| NC_000022.9:g.17544415C>T | NCBI36 |
| NG_033863.1:g.6962G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.575G>A MANE Select | ENSP00000215882.5:p.Gly192Asp | |
| ENST00000215882.9:c.575G>A | ENSP00000215882.5:p.Gly192Asp | |
| ENST00000451283.5:c.266G>A | ENSP00000401480.1:p.Gly89Asp | |
| ENST00000461267.1:n.721G>A | ||
| ENST00000470922.5:n.717G>A | ||
| NM_001256534.1:c.596G>A | NP_001243463.1:p.Gly199Asp | |
| NM_001287387.1:c.266G>A | NP_001274316.1:p.Gly89Asp | |
| NM_005984.4:c.575G>A | NP_005975.1:p.Gly192Asp | |
| NR_046298.2:n.626G>A | ||
| NM_005984.5:c.575G>A MANE Select | NP_005975.1:p.Gly192Asp | |
| NM_001256534.2:c.596G>A | NP_001243463.1:p.Gly199Asp | |
| NM_001287387.2:c.266G>A | NP_001274316.1:p.Gly89Asp | |
| NR_046298.3:n.499G>A |