Linked Data
ClinVar Variation Id:
464947
dbSNP Id:
rs749565002
ExAC:
17:37822140 C / T
gnomAD v2:
17-37822140-C-T
gnomAD v3:
17-39665887-C-T
gnomAD v4:
17-39665887-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665887C>T , CM000679.2:g.39665887C>T | GRCh38 |
| NC_000017.10:g.37822140C>T , CM000679.1:g.37822140C>T | GRCh37 |
| NC_000017.9:g.35075666C>T | NCBI36 |
| NG_008892.1:g.5542C>T , LRG_210:g.5542C>T | |
| NG_042278.1:g.2907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.3:c.282C>T MANE Select | ENSP00000312624.2:p.Phe94= | |
| ENST00000309889.2:c.282C>T | ENSP00000312624.2:p.Phe94= | |
| ENST00000578283.1:c.210C>T | ENSP00000462787.1:p.Phe70= | |
| NM_003673.3:c.282C>T , LRG_210t1:c.282C>T | NP_003664.1:p.Phe94= | |
| NM_003673.4:c.282C>T MANE Select | NP_003664.1:p.Phe94= |