Linked Data
ClinVar Variation Id:
719100
ClinVar RCV Id:
RCV000892183
dbSNP Id:
rs150320900
ExAC:
6:108882915 C / T
gnomAD v2:
6-108882915-C-T
gnomAD v3:
6-108561712-C-T
gnomAD v4:
6-108561712-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561712C>T , CM000668.2:g.108561712C>T | GRCh38 |
| NC_000006.11:g.108882915C>T , CM000668.1:g.108882915C>T | GRCh37 |
| NC_000006.10:g.108989608C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.504C>T MANE Select | ENSP00000385824.1:p.Arg168= | |
| ENST00000343882.10:c.504C>T | ENSP00000339527.6:p.Arg168= | |
| ENST00000406360.1:c.504C>T | ENSP00000385824.1:p.Arg168= | |
| NM_001455.3:c.504C>T | NP_001446.1:p.Arg168= | |
| NM_201559.2:c.504C>T | NP_963853.1:p.Arg168= | |
| NM_001455.4:c.504C>T MANE Select | NP_001446.1:p.Arg168= | |
| NM_201559.3:c.504C>T | NP_963853.1:p.Arg168= |