Linked Data
ClinVar Variation Id:
92912
dbSNP Id:
rs398123357
gnomAD v2:
3-33095049-T-C
gnomAD v3:
3-33053557-T-C
gnomAD v4:
3-33053557-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33053557T>C , CM000665.2:g.33053557T>C | GRCh38 |
| NC_000003.11:g.33095049T>C , CM000665.1:g.33095049T>C | GRCh37 |
| NC_000003.10:g.33070053T>C | NCBI36 |
| NG_009005.1:g.48646A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307363.10:c.734-8A>G MANE Select | ENSP00000306920.4:n.734-8A>G | |
| ENST00000307363.9:c.734-8A>G | ENSP00000306920.4:n.734-8A>G | |
| ENST00000307377.12:c.341-8A>G | ENSP00000305920.8:n.341-8A>G | |
| ENST00000399402.7:c.644-8A>G | ENSP00000382333.2:n.644-8A>G | |
| ENST00000415454.1:c.257-8A>G | ENSP00000411813.1:n.257-8A>G | |
| ENST00000438227.1:c.*226-8A>G | ENSP00000401250.1:n.*226-8A>G | |
| ENST00000446732.5:c.*177-8A>G | ENSP00000407365.1:n.*177-8A>G | |
| ENST00000482097.5:n.109-8A>G | ||
| ENST00000485698.5:n.137-8A>G | ||
| ENST00000498537.5:n.133-8A>G | ||
| NM_000404.2:c.734-8A>G | NP_000395.2:n.734-8A>G | |
| NM_000404.3:c.734-8A>G | NP_000395.2:n.734-8A>G | |
| NM_001079811.1:c.644-8A>G | NP_001073279.1:n.644-8A>G | |
| NM_001079811.2:c.644-8A>G | NP_001073279.1:n.644-8A>G | |
| NM_001135602.1:c.341-8A>G | NP_001129074.1:n.341-8A>G | |
| NM_001135602.2:c.341-8A>G | NP_001129074.1:n.341-8A>G | |
| NM_001317040.1:c.878-8A>G | NP_001303969.1:n.878-8A>G | |
| NM_000404.4:c.734-8A>G MANE Select | NP_000395.3:n.734-8A>G | |
| NM_001079811.3:c.644-8A>G | NP_001073279.2:n.644-8A>G | |
| NM_001135602.3:c.341-8A>G | NP_001129074.2:n.341-8A>G | |
| NM_001317040.2:c.878-8A>G | NP_001303969.2:n.878-8A>G | |
| NM_001393580.1:c.734-8A>G | NP_001380509.1:n.734-8A>G |