Linked Data
dbSNP Id:
rs782335811
ExAC:
22:19164385 A / G
gnomAD v2:
22-19164385-A-G
gnomAD v3:
22-19176872-A-G
gnomAD v4:
22-19176872-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176872A>G , CM000684.2:g.19176872A>G | GRCh38 |
| NC_000022.10:g.19164385A>G , CM000684.1:g.19164385A>G | GRCh37 |
| NC_000022.9:g.17544385A>G | NCBI36 |
| NG_033863.1:g.6992T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.605T>C MANE Select | ENSP00000215882.5:p.Met202Thr | |
| ENST00000215882.9:c.605T>C | ENSP00000215882.5:p.Met202Thr | |
| ENST00000451283.5:c.296T>C | ENSP00000401480.1:p.Met99Thr | |
| ENST00000461267.1:n.751T>C | ||
| ENST00000470922.5:n.747T>C | ||
| NM_001256534.1:c.626T>C | NP_001243463.1:p.Met209Thr | |
| NM_001287387.1:c.296T>C | NP_001274316.1:p.Met99Thr | |
| NM_005984.4:c.605T>C | NP_005975.1:p.Met202Thr | |
| NR_046298.2:n.656T>C | ||
| NM_005984.5:c.605T>C MANE Select | NP_005975.1:p.Met202Thr | |
| NM_001256534.2:c.626T>C | NP_001243463.1:p.Met209Thr | |
| NM_001287387.2:c.296T>C | NP_001274316.1:p.Met99Thr | |
| NR_046298.3:n.529T>C |