Linked Data
ClinVar Variation Id:
355573
dbSNP Id:
rs367803197
ExAC:
6:143772230 C / T
gnomAD v2:
6-143772230-C-T
gnomAD v3:
6-143451093-C-T
gnomAD v4:
6-143451093-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143451093C>T , CM000668.2:g.143451093C>T | GRCh38 |
| NC_000006.11:g.143772230C>T , CM000668.1:g.143772230C>T | GRCh37 |
| NC_000006.10:g.143813923C>T | NCBI36 |
| NG_008459.1:g.5313C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.51C>T MANE Select | ENSP00000356563.4:p.Ile17= | |
| ENST00000367591.4:c.51C>T | ENSP00000356563.4:p.Ile17= | |
| ENST00000367592.5:c.51C>T | ENSP00000356564.1:p.Ile17= | |
| NM_003630.2:c.51C>T | NP_003621.1:p.Ile17= | |
| NM_003630.3:c.51C>T MANE Select | NP_003621.1:p.Ile17= |