Linked Data
ClinVar Variation Id:
2196211
ClinVar RCV Id:
RCV002651023
dbSNP Id:
rs763861048
ExAC:
6:24178660 G / A
gnomAD v2:
6-24178660-G-A
gnomAD v3:
6-24178432-G-A
gnomAD v4:
6-24178432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24178432G>A , CM000668.2:g.24178432G>A | GRCh38 |
| NC_000006.11:g.24178660G>A , CM000668.1:g.24178660G>A | GRCh37 |
| NC_000006.10:g.24286639G>A | NCBI36 |
| NG_012829.1:g.184621C>T | |
| NG_012829.2:g.209861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.1224C>T MANE Select | ENSP00000367715.3:p.Thr408= | |
| ENST00000378450.6:c.483C>T | ENSP00000367711.3:p.Thr161= | |
| ENST00000378454.7:c.1224C>T | ENSP00000367715.3:p.Thr408= | |
| NM_001195610.1:c.1224C>T | NP_001182539.1:p.Thr408= | |
| NM_016356.4:c.1224C>T | NP_057440.2:p.Thr408= | |
| NM_016356.5:c.1224C>T MANE Select | NP_057440.2:p.Thr408= | |
| NM_001195610.2:c.1224C>T | NP_001182539.1:p.Thr408= |