Linked Data
ClinVar Variation Id:
167086
dbSNP Id:
rs148739656
ExAC:
6:1611182 C / T
gnomAD v2:
6-1611182-C-T
gnomAD v3:
6-1610947-C-T
gnomAD v4:
6-1610947-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610947C>T , CM000668.2:g.1610947C>T | GRCh38 |
| NC_000006.11:g.1611182C>T , CM000668.1:g.1611182C>T | GRCh37 |
| NC_000006.10:g.1556181C>T | NCBI36 |
| NG_009368.1:g.5502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.502C>T MANE Select | ENSP00000493906.1:p.Leu168= | |
| ENST00000380874.3:c.502C>T | ENSP00000370256.2:p.Leu168= | |
| NM_001453.2:c.502C>T | NP_001444.2:p.Leu168= | |
| NM_001453.3:c.502C>T MANE Select | NP_001444.2:p.Leu168= |