Linked Data
ClinVar Variation Id:
489134
dbSNP Id:
rs1420628245
gnomAD v2:
16-57996944-C-T
gnomAD v4:
16-57963040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57963040C>T , CM000678.2:g.57963040C>T | GRCh38 |
| NC_000016.9:g.57996944C>T , CM000678.1:g.57996944C>T | GRCh37 |
| NC_000016.8:g.56554445C>T | NCBI36 |
| NG_016351.1:g.13077G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251102.13:c.315G>A MANE Select | ENSP00000251102.8:p.Trp105Ter | |
| ENST00000251102.12:c.315G>A | ENSP00000251102.8:p.Trp105Ter | |
| ENST00000311183.8:c.315G>A | ENSP00000311670.4:p.Trp105Ter | |
| ENST00000562761.1:c.315G>A | ENSP00000455708.1:p.Trp105Ter | |
| ENST00000564448.5:c.315G>A | ENSP00000454633.1:p.Trp105Ter | |
| NM_001135639.1:c.315G>A | NP_001129111.1:p.Trp105Ter | |
| NM_001286130.1:c.315G>A | NP_001273059.1:p.Trp105Ter | |
| NM_001297.4:c.315G>A | NP_001288.3:p.Trp105Ter | |
| XM_006721134.2:c.315G>A | XP_006721197.1:p.Trp105Ter | |
| NM_001135639.2:c.315G>A | NP_001129111.1:p.Trp105Ter | |
| NM_001286130.2:c.315G>A | NP_001273059.1:p.Trp105Ter | |
| NM_001297.5:c.315G>A MANE Select | NP_001288.3:p.Trp105Ter |