Linked Data
ClinVar Variation Id:
2788
dbSNP Id:
rs137852891
ExAC:
3:81584397 T / C
gnomAD v2:
3-81584397-T-C
gnomAD v3:
3-81535246-T-C
gnomAD v4:
3-81535246-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535246T>C , CM000665.2:g.81535246T>C | GRCh38 |
| NC_000003.11:g.81584397T>C , CM000665.1:g.81584397T>C | GRCh37 |
| NC_000003.10:g.81667087T>C | NCBI36 |
| NG_011810.1:g.231555A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1883A>G MANE Select | ENSP00000410833.2:p.His628Arg | |
| ENST00000429644.6:c.1883A>G | ENSP00000410833.2:p.His628Arg | |
| ENST00000484687.1:n.284A>G | ||
| ENST00000489715.1:c.1760A>G | ENSP00000419638.1:p.His587Arg | |
| NM_000158.3:c.1883A>G | NP_000149.3:p.His628Arg | |
| NM_000158.4:c.1883A>G MANE Select | NP_000149.4:p.His628Arg |