Linked Data
ClinVar Variation Id:
1324089
ClinVar RCV Id:
RCV001780794
dbSNP Id:
rs104893728
gnomAD v2:
3-190126214-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408425C>A , CM000665.2:g.190408425C>A | GRCh38 |
| NC_000003.11:g.190126214C>A , CM000665.1:g.190126214C>A | GRCh37 |
| NC_000003.10:g.191608908C>A | NCBI36 |
| NG_008149.1:g.25374C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.494C>A MANE Select | ENSP00000264734.3:p.Ser165Tyr | |
| ENST00000456423.2:c.115-1478C>A | ENSP00000414136.2:n.115-1478C>A | |
| ENST00000264734.2:c.704C>A | ENSP00000264734.2:p.Ser235Tyr | |
| ENST00000456423.1:c.325-1478C>A | ENSP00000414136.1:n.325-1478C>A | |
| NM_006580.3:c.704C>A | NP_006571.1:p.Ser235Tyr | |
| NM_001378492.1:c.494C>A | NP_001365421.1:p.Ser165Tyr | |
| NM_001378493.1:c.494C>A | NP_001365422.1:p.Ser165Tyr | |
| NM_006580.4:c.494C>A MANE Select | NP_006571.2:p.Ser165Tyr |