Linked Data
ClinVar Variation Id:
2952355
ClinVar RCV Id:
RCV003815506
gnomAD v4:
3-33068937-T-C
MyVariant Identifiers:
chr3:g.33110429T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33068937T>C , CM000665.2:g.33068937T>C | GRCh38 |
| NC_000003.11:g.33110429T>C , CM000665.1:g.33110429T>C | GRCh37 |
| NC_000003.10:g.33085433T>C | NCBI36 |
| NG_009005.1:g.33266A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.279A>G MANE Select | ENSP00000306920.4:p.Pro93= | |
| ENST00000307363.9:c.279A>G | ENSP00000306920.4:p.Pro93= | |
| ENST00000307377.12:c.246-3380A>G | ENSP00000305920.8:n.246-3380A>G | |
| ENST00000399402.7:c.189A>G | ENSP00000382333.2:p.Pro63= | |
| ENST00000415454.1:c.76-10668A>G | ENSP00000411813.1:n.76-10668A>G | |
| ENST00000436768.1:c.423A>G | ENSP00000387989.1:p.Pro141= | |
| ENST00000438227.1:c.76-3380A>G | ENSP00000401250.1:n.76-3380A>G | |
| ENST00000440656.1:c.-115A>G | ENSP00000411769.1:n.-115A>G | |
| ENST00000446732.5:c.156-3380A>G | ENSP00000407365.1:n.156-3380A>G | |
| ENST00000450835.1:c.189A>G | ENSP00000403264.1:p.Pro63= | |
| ENST00000464355.1:n.237A>G | ||
| ENST00000482097.5:n.109-15388A>G | ||
| ENST00000485698.5:n.137-15388A>G | ||
| ENST00000498537.5:n.133-15388A>G | ||
| NM_000404.2:c.279A>G | NP_000395.2:p.Pro93= | |
| NM_000404.3:c.279A>G | NP_000395.2:p.Pro93= | |
| NM_001079811.1:c.189A>G | NP_001073279.1:p.Pro63= | |
| NM_001079811.2:c.189A>G | NP_001073279.1:p.Pro63= | |
| NM_001135602.1:c.246-3380A>G | NP_001129074.1:n.246-3380A>G | |
| NM_001135602.2:c.246-3380A>G | NP_001129074.1:n.246-3380A>G | |
| NM_001317040.1:c.423A>G | NP_001303969.1:p.Pro141= | |
| NM_000404.4:c.279A>G MANE Select | NP_000395.3:p.Pro93= | |
| NM_001079811.3:c.189A>G | NP_001073279.2:p.Pro63= | |
| NM_001135602.3:c.246-3380A>G | NP_001129074.2:n.246-3380A>G | |
| NM_001317040.2:c.423A>G | NP_001303969.2:p.Pro141= | |
| NM_001393580.1:c.279A>G | NP_001380509.1:p.Pro93= |