Linked Data
ClinVar Variation Id:
1397595
dbSNP Id:
rs782165332
ExAC:
22:19164185 A / G
gnomAD v2:
22-19164185-A-G
gnomAD v3:
22-19176672-A-G
gnomAD v4:
22-19176672-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176672A>G , CM000684.2:g.19176672A>G | GRCh38 |
| NC_000022.10:g.19164185A>G , CM000684.1:g.19164185A>G | GRCh37 |
| NC_000022.9:g.17544185A>G | NCBI36 |
| NG_033863.1:g.7192T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.653T>C MANE Select | ENSP00000215882.5:p.Met218Thr | |
| ENST00000215882.9:c.653T>C | ENSP00000215882.5:p.Met218Thr | |
| ENST00000451283.5:c.344T>C | ENSP00000401480.1:p.Met115Thr | |
| ENST00000461267.1:n.799T>C | ||
| ENST00000470922.5:n.795T>C | ||
| NM_001256534.1:c.674T>C | NP_001243463.1:p.Met225Thr | |
| NM_001287387.1:c.344T>C | NP_001274316.1:p.Met115Thr | |
| NM_005984.4:c.653T>C | NP_005975.1:p.Met218Thr | |
| NR_046298.2:n.704T>C | ||
| NM_005984.5:c.653T>C MANE Select | NP_005975.1:p.Met218Thr | |
| NM_001256534.2:c.674T>C | NP_001243463.1:p.Met225Thr | |
| NM_001287387.2:c.344T>C | NP_001274316.1:p.Met115Thr | |
| NR_046298.3:n.577T>C |