Linked Data
ClinVar Variation Id:
318417
dbSNP Id:
rs148535912
ExAC:
16:2335647 C / T
gnomAD v2:
16-2335647-C-T
gnomAD v3:
16-2285646-C-T
gnomAD v4:
16-2285646-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2285646C>T , CM000678.2:g.2285646C>T | GRCh38 |
| NC_000016.9:g.2335647C>T , CM000678.1:g.2335647C>T | GRCh37 |
| NC_000016.8:g.2275648C>T | NCBI36 |
| NG_011790.1:g.60101G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.3279G>A MANE Select | ENSP00000301732.5:p.Glu1093= | |
| ENST00000301732.9:c.3279G>A | ENSP00000301732.5:p.Glu1093= | |
| ENST00000382381.7:c.3105G>A | ENSP00000371818.3:p.Glu1035= | |
| NM_001089.2:c.3279G>A | NP_001080.2:p.Glu1093= | |
| NM_001089.3:c.3279G>A MANE Select | NP_001080.2:p.Glu1093= |