Linked Data
ClinVar Variation Id:
319186
dbSNP Id:
rs201211891
ExAC:
16:3658477 A / C
gnomAD v2:
16-3658477-A-C
gnomAD v3:
16-3608476-A-C
gnomAD v4:
16-3608476-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3608476A>C , CM000678.2:g.3608476A>C | GRCh38 |
| NC_000016.9:g.3658477A>C , CM000678.1:g.3658477A>C | GRCh37 |
| NC_000016.8:g.3598478A>C | NCBI36 |
| NG_028123.1:g.8109T>G , LRG_503:g.8109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697859.1:n.1111T>G | ||
| ENST00000294008.4:c.489T>G MANE Select | ENSP00000294008.3:p.Gly163= | |
| ENST00000294008.3:c.489T>G | ENSP00000294008.3:p.Gly163= | |
| ENST00000466154.5:n.784T>G | ||
| ENST00000486524.1:n.1117T>G | ||
| NM_032444.2:c.489T>G , LRG_503t1:c.489T>G | NP_115820.2:p.Gly163= | |
| XM_011522715.1:c.489T>G | XP_011521017.1:p.Gly163= | |
| NM_032444.3:c.489T>G | NP_115820.2:p.Gly163= | |
| XM_011522715.3:c.489T>G | XP_011521017.1:p.Gly163= | |
| XM_024450471.1:c.489T>G | XP_024306239.1:p.Gly163= | |
| NM_032444.4:c.489T>G MANE Select | NP_115820.2:p.Gly163= |