Linked Data
ClinVar Variation Id:
3174343
ClinVar RCV Id:
RCV004471707
dbSNP Id:
rs1320975974
gnomAD v4:
17-3664792-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3664792C>A , CM000679.2:g.3664792C>A | GRCh38 |
| NC_000017.10:g.3568086C>A , CM000679.1:g.3568086C>A | GRCh37 |
| NC_000017.9:g.3514835C>A | NCBI36 |
| NG_012489.1:g.33325C>A | |
| NG_053154.1:g.8888G>T | |
| NG_012489.2:g.33325C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225525.4:c.46G>T (TAX1BP3) MANE Select | ENSP00000225525.3:p.Val16Phe | |
| ENST00000225525.3:c.46G>T (TAX1BP3) | ENSP00000225525.3:p.Val16Phe | |
| ENST00000550383.1:c.*3403G>T (P2RX5-TAX1BP3) | ENSP00000455681.1:n.*3403G>T | |
| ENST00000611779.4:c.46G>T (TAX1BP3) | ENSP00000484776.1:p.Val16Phe | |
| NM_001204698.1:c.46G>T (TAX1BP3) | NP_001191627.1:p.Val16Phe | |
| NM_014604.3:c.46G>T (TAX1BP3) | NP_055419.1:p.Val16Phe | |
| NR_037928.1:n.5101G>T (P2RX5-TAX1BP3) | ||
| NM_014604.4:c.46G>T (TAX1BP3) MANE Select | NP_055419.1:p.Val16Phe | |
| NM_001204698.2:c.46G>T (TAX1BP3) | NP_001191627.1:p.Val16Phe |