Linked Data
ClinVar Variation Id:
2112166
ClinVar RCV Id:
RCV003034408
dbSNP Id:
rs751396384
ExAC:
6:24178566 G / A
gnomAD v2:
6-24178566-G-A
gnomAD v3:
6-24178338-G-A
gnomAD v4:
6-24178338-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178338G>A , CM000668.2:g.24178338G>A | GRCh38 |
| NC_000006.11:g.24178566G>A , CM000668.1:g.24178566G>A | GRCh37 |
| NC_000006.10:g.24286545G>A | NCBI36 |
| NG_012829.1:g.184715C>T | |
| NG_012829.2:g.209955C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1318C>T MANE Select | ENSP00000367715.3:p.Gln440Ter | |
| ENST00000378450.6:c.577C>T | ENSP00000367711.3:p.Gln193Ter | |
| ENST00000378454.7:c.1318C>T | ENSP00000367715.3:p.Gln440Ter | |
| NM_001195610.1:c.1318C>T | NP_001182539.1:p.Gln440Ter | |
| NM_016356.4:c.1318C>T | NP_057440.2:p.Gln440Ter | |
| NM_016356.5:c.1318C>T MANE Select | NP_057440.2:p.Gln440Ter | |
| NM_001195610.2:c.1318C>T | NP_001182539.1:p.Gln440Ter |