Linked Data
ClinVar Variation Id:
318430
dbSNP Id:
rs748766458
ExAC:
16:2338037 G / A
gnomAD v2:
16-2338037-G-A
gnomAD v3:
16-2288036-G-A
gnomAD v4:
16-2288036-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2288036G>A , CM000678.2:g.2288036G>A | GRCh38 |
| NC_000016.9:g.2338037G>A , CM000678.1:g.2338037G>A | GRCh37 |
| NC_000016.8:g.2278038G>A | NCBI36 |
| NG_011790.1:g.57711C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.2994C>T MANE Select | ENSP00000301732.5:p.Arg998= | |
| ENST00000301732.9:c.2994C>T | ENSP00000301732.5:p.Arg998= | |
| ENST00000382381.7:c.2820C>T | ENSP00000371818.3:p.Arg940= | |
| NM_001089.2:c.2994C>T | NP_001080.2:p.Arg998= | |
| NM_001089.3:c.2994C>T MANE Select | NP_001080.2:p.Arg998= |