Linked Data
ClinVar Variation Id:
1363103
ClinVar RCV Id:
RCV001934750
dbSNP Id:
rs2124480809
gnomAD v4:
X-133754063-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133754063C>T , CM000685.2:g.133754063C>T | GRCh38 |
| NC_000023.10:g.132888090C>T , CM000685.1:g.132888090C>T | GRCh37 |
| NC_000023.9:g.132715756C>T | NCBI36 |
| NG_009286.1:g.236577G>A , LRG_505:g.236577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684880.1:c.*39G>A | ENSP00000510280.1:n.*39G>A | |
| ENST00000689310.1:c.403G>A | ENSP00000510438.1:p.Asp135Asn | |
| ENST00000692630.1:n.581G>A | ||
| ENST00000370818.8:c.451G>A MANE Select | ENSP00000359854.3:p.Asp151Asn | |
| ENST00000394299.7:c.451G>A | ENSP00000377836.2:p.Asp151Asn | |
| ENST00000370818.7:c.451G>A | ENSP00000359854.3:p.Asp151Asn | |
| ENST00000394299.6:c.451G>A | ENSP00000377836.2:p.Asp151Asn | |
| ENST00000631057.2:c.289G>A | ENSP00000486325.1:p.Asp97Asn | |
| NM_001164617.1:c.451G>A | NP_001158089.1:p.Asp151Asn | |
| NM_001164618.1:c.403G>A | NP_001158090.1:p.Asp135Asn | |
| NM_001164619.1:c.289G>A | NP_001158091.1:p.Asp97Asn | |
| NM_004484.3:c.451G>A , LRG_505t1:c.451G>A | NP_004475.1:p.Asp151Asn | |
| XM_017029413.2:c.451G>A | XP_016884902.1:p.Asp151Asn | |
| NM_001164617.2:c.451G>A | NP_001158089.1:p.Asp151Asn | |
| NM_001164618.2:c.403G>A | NP_001158090.1:p.Asp135Asn | |
| NM_001164619.2:c.289G>A | NP_001158091.1:p.Asp97Asn | |
| NM_004484.4:c.451G>A MANE Select | NP_004475.1:p.Asp151Asn |