Linked Data
ClinVar Variation Id:
1531441
dbSNP Id:
rs1200105843
gnomAD v2:
3-81720091-T-C
gnomAD v4:
3-81670940-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670940T>C , CM000665.2:g.81670940T>C | GRCh38 |
| NC_000003.11:g.81720091T>C , CM000665.1:g.81720091T>C | GRCh37 |
| NC_000003.10:g.81802781T>C | NCBI36 |
| NG_011810.1:g.95861A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.327A>G MANE Select | ENSP00000410833.2:p.Pro109= | |
| ENST00000429644.6:c.327A>G | ENSP00000410833.2:p.Pro109= | |
| ENST00000477426.1:n.43A>G | ||
| ENST00000489715.1:c.204A>G | ENSP00000419638.1:p.Pro68= | |
| NM_000158.3:c.327A>G | NP_000149.3:p.Pro109= | |
| NM_000158.4:c.327A>G MANE Select | NP_000149.4:p.Pro109= |