Linked Data
ClinVar Variation Id:
1394501
ClinVar RCV Id:
RCV001898547
dbSNP Id:
rs1705760375
gnomAD v3:
3-81705470-T-C
gnomAD v4:
3-81705470-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81705470T>C , CM000665.2:g.81705470T>C | GRCh38 |
| NC_000003.11:g.81754621T>C , CM000665.1:g.81754621T>C | GRCh37 |
| NC_000003.10:g.81837311T>C | NCBI36 |
| NG_011810.1:g.61331A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.287A>G MANE Select | ENSP00000410833.2:p.Glu96Gly | |
| ENST00000429644.6:c.287A>G | ENSP00000410833.2:p.Glu96Gly | |
| ENST00000489715.1:c.164A>G | ENSP00000419638.1:p.Glu55Gly | |
| NM_000158.3:c.287A>G | NP_000149.3:p.Glu96Gly | |
| NM_000158.4:c.287A>G MANE Select | NP_000149.4:p.Glu96Gly |