Linked Data
ClinVar Variation Id:
235808
dbSNP Id:
rs747404758
ExAC:
3:81627234 T / C
gnomAD v2:
3-81627234-T-C
gnomAD v3:
3-81578083-T-C
gnomAD v4:
3-81578083-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81578083T>C , CM000665.2:g.81578083T>C | GRCh38 |
| NC_000003.11:g.81627234T>C , CM000665.1:g.81627234T>C | GRCh37 |
| NC_000003.10:g.81709924T>C | NCBI36 |
| NG_011810.1:g.188718A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1460A>G MANE Select | ENSP00000410833.2:p.Asp487Gly | |
| ENST00000429644.6:c.1460A>G | ENSP00000410833.2:p.Asp487Gly | |
| ENST00000489715.1:c.1337A>G | ENSP00000419638.1:p.Asp446Gly | |
| NM_000158.3:c.1460A>G | NP_000149.3:p.Asp487Gly | |
| NM_000158.4:c.1460A>G MANE Select | NP_000149.4:p.Asp487Gly |