Linked Data
ClinVar Variation Id:
1060531
ClinVar RCV Id:
RCV001369976
dbSNP Id:
rs1559259122
gnomAD v4:
3-9890799-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9890799A>T , CM000665.2:g.9890799A>T | GRCh38 |
| NC_000003.11:g.9932483A>T , CM000665.1:g.9932483A>T | GRCh37 |
| NC_000003.10:g.9907483A>T | NCBI36 |
| NG_041779.1:g.5213A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000489724.2:c.77A>T | ENSP00000497724.1:p.His26Leu | |
| ENST00000647897.1:c.77A>T MANE Select | ENSP00000496942.1:p.His26Leu | |
| ENST00000307768.4:c.77A>T | ENSP00000306106.4:p.His26Leu | |
| ENST00000489724.1:n.167A>T | ||
| ENST00000616966.2:c.77A>T | ENSP00000481606.1:p.His26Leu | |
| NM_032492.3:c.77A>T | NP_115881.3:p.His26Leu | |
| NM_001363890.1:c.-192A>T | NP_001350819.1:n.-192A>T | |
| NM_032492.4:c.77A>T MANE Select | NP_115881.3:p.His26Leu |