Linked Data
ClinVar Variation Id:
190940
ClinVar RCV Id:
RCV000171122
dbSNP Id:
rs372108744
ExAC:
2:242741273 C / T
gnomAD v2:
2-242741273-C-T
gnomAD v3:
2-241801858-C-T
gnomAD v4:
2-241801858-C-T
PubMed:
PMID:25147203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241801858C>T , CM000664.2:g.241801858C>T | GRCh38 |
| NC_000002.11:g.242741273C>T , CM000664.1:g.242741273C>T | GRCh37 |
| NC_000002.10:g.242389946C>T | NCBI36 |
| NG_046977.1:g.30034C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000192314.7:c.197C>T MANE Select | ENSP00000192314.6:p.Thr66Met | |
| ENST00000192314.6:c.197C>T | ENSP00000192314.6:p.Thr66Met | |
| NM_022134.2:c.197C>T | NP_071417.2:p.Thr66Met | |
| NM_022134.3:c.197C>T MANE Select | NP_071417.2:p.Thr66Met |