Linked Data
ClinVar Variation Id:
1367617
ClinVar RCV Id:
RCV001947378
dbSNP Id:
rs757089364
ExAC:
6:143806322 A / G
gnomAD v2:
6-143806322-A-G
gnomAD v3:
6-143485185-A-G
gnomAD v4:
6-143485185-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.143485185A>G , CM000668.2:g.143485185A>G | GRCh38 |
| NC_000006.11:g.143806322A>G , CM000668.1:g.143806322A>G | GRCh37 |
| NC_000006.10:g.143848015A>G | NCBI36 |
| NG_008459.1:g.39405A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367591.5:c.975A>G MANE Select | ENSP00000356563.4:p.Ile325Met | |
| ENST00000367591.4:c.975A>G | ENSP00000356563.4:p.Ile325Met | |
| ENST00000585848.1:n.114A>G | ||
| NM_003630.2:c.975A>G | NP_003621.1:p.Ile325Met | |
| NM_003630.3:c.975A>G MANE Select | NP_003621.1:p.Ile325Met |