Linked Data
ClinVar Variation Id:
582892
ClinVar RCV Id:
RCV000707080
dbSNP Id:
rs1451389209
gnomAD v4:
2-96265281-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265281G>T , CM000664.2:g.96265281G>T | GRCh38 |
| NC_000002.11:g.96931019G>T , CM000664.1:g.96931019G>T | GRCh37 |
| NC_000002.10:g.96294746G>T | NCBI36 |
| NG_027695.1:g.5733C>A , LRG_528:g.5733C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.101C>A MANE Select | ENSP00000258439.3:p.Ala34Asp | |
| ENST00000258439.7:c.101C>A | ENSP00000258439.2:p.Ala34Asp | |
| ENST00000432959.1:c.101C>A | ENSP00000416660.1:p.Ala34Asp | |
| NM_001193304.2:c.101C>A | NP_001180233.1:p.Ala34Asp | |
| NM_017849.3:c.101C>A , LRG_528t1:c.101C>A | NP_060319.1:p.Ala34Asp | |
| NM_001193304.3:c.101C>A | NP_001180233.1:p.Ala34Asp | |
| NM_017849.4:c.101C>A MANE Select | NP_060319.1:p.Ala34Asp |