Linked Data
ClinVar Variation Id:
653415
dbSNP Id:
rs1354785209
gnomAD v2:
2-189915353-A-G
gnomAD v4:
2-189050627-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189050627A>G , CM000664.2:g.189050627A>G | GRCh38 |
| NC_000002.11:g.189915353A>G , CM000664.1:g.189915353A>G | GRCh37 |
| NC_000002.10:g.189623598A>G | NCBI36 |
| NG_011799.1:g.134253T>C | |
| NG_011799.2:g.134253T>C | |
| NG_011799.3:g.179675T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.2981T>C MANE Select | ENSP00000364000.3:p.Ile994Thr | |
| ENST00000374866.7:c.2981T>C | ENSP00000364000.3:p.Ile994Thr | |
| ENST00000618828.1:c.1820T>C | ENSP00000482184.1:p.Ile607Thr | |
| NM_000393.3:c.2981T>C | NP_000384.2:p.Ile994Thr | |
| XM_011510573.1:c.2843T>C | XP_011508875.1:p.Ile948Thr | |
| NM_000393.4:c.2981T>C | NP_000384.2:p.Ile994Thr | |
| XM_011510573.3:c.2843T>C | XP_011508875.1:p.Ile948Thr | |
| NM_000393.5:c.2981T>C MANE Select | NP_000384.2:p.Ile994Thr |