Linked Data
ClinVar Variation Id:
1197397
ClinVar RCV Id:
RCV001561207
dbSNP Id:
rs74835022
gnomAD v2:
3-190122473-T-G
gnomAD v3:
3-190404684-T-G
gnomAD v4:
3-190404684-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404684T>G , CM000665.2:g.190404684T>G | GRCh38 |
| NC_000003.11:g.190122473T>G , CM000665.1:g.190122473T>G | GRCh37 |
| NC_000003.10:g.191605167T>G | NCBI36 |
| NG_008149.1:g.21633T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.218-78T>G MANE Select | ENSP00000264734.3:n.218-78T>G | |
| ENST00000456423.2:c.115-5219T>G | ENSP00000414136.2:n.115-5219T>G | |
| ENST00000264734.2:c.428-78T>G | ENSP00000264734.2:n.428-78T>G | |
| ENST00000456423.1:c.325-5219T>G | ENSP00000414136.1:n.325-5219T>G | |
| ENST00000468220.1:n.410-78T>G | ||
| NM_006580.3:c.428-78T>G | NP_006571.1:n.428-78T>G | |
| NM_001378492.1:c.218-78T>G | NP_001365421.1:n.218-78T>G | |
| NM_001378493.1:c.218-78T>G | NP_001365422.1:n.218-78T>G | |
| NM_006580.4:c.218-78T>G MANE Select | NP_006571.2:n.218-78T>G |