Linked Data
ClinVar Variation Id:
1747656
ClinVar RCV Id:
RCV002349708
dbSNP Id:
rs1244875384
gnomAD v2:
2-47604206-C-T
gnomAD v3:
2-47377067-C-T
gnomAD v4:
2-47377067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377067C>T , CM000664.2:g.47377067C>T | GRCh38 |
| NC_000002.11:g.47604206C>T , CM000664.1:g.47604206C>T | GRCh37 |
| NC_000002.10:g.47457710C>T | NCBI36 |
| NG_012352.2:g.36905C>T , LRG_215:g.36905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.545C>T MANE Select | ENSP00000263735.4:p.Thr182Met | |
| ENST00000263735.8:c.545C>T | ENSP00000263735.4:p.Thr182Met | |
| ENST00000405271.5:c.629C>T | ENSP00000385476.1:p.Thr210Met | |
| ENST00000456133.5:c.629C>T | ENSP00000410675.1:p.Thr210Met | |
| ENST00000490733.1:n.394C>T | ||
| NM_002354.2:c.545C>T , LRG_215t1:c.545C>T | NP_002345.2:p.Thr182Met | |
| NM_002354.3:c.545C>T MANE Select | NP_002345.2:p.Thr182Met |