Linked Data
ClinVar Variation Id:
1167754
ClinVar RCV Id:
RCV001517354
dbSNP Id:
rs782813365
ExAC:
X:100611845 C / T
gnomAD v2:
X-100611845-C-T
gnomAD v3:
X-101356857-C-T
gnomAD v4:
X-101356857-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101356857C>T , CM000685.2:g.101356857C>T | GRCh38 |
| NC_000023.10:g.100611845C>T , CM000685.1:g.100611845C>T | GRCh37 |
| NC_000023.9:g.100498501C>T | NCBI36 |
| NG_009616.1:g.34368G>A , LRG_128:g.34368G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478995.2:n.1436G>A | ||
| ENST00000488970.2:n.1434G>A | ||
| ENST00000695614.1:c.1276G>A | ENSP00000512053.1:p.Asp426Asn | |
| ENST00000695615.1:c.1276G>A | ENSP00000512054.1:p.Asp426Asn | |
| ENST00000695616.1:c.*1121G>A | ENSP00000512055.1:n.*1121G>A | |
| ENST00000695617.1:c.1273G>A | ENSP00000512056.1:p.Asp425Asn | |
| ENST00000695618.1:c.*1025G>A | ENSP00000512058.1:n.*1025G>A | |
| ENST00000695619.1:c.*986G>A | ENSP00000512059.1:n.*986G>A | |
| ENST00000695620.1:c.*1121G>A | ENSP00000512060.1:n.*1121G>A | |
| ENST00000695621.1:c.1276G>A | ENSP00000512061.1:p.Asp426Asn | |
| ENST00000695622.1:c.1213G>A | ENSP00000512062.1:p.Asp405Asn | |
| ENST00000695623.1:c.1270G>A | ENSP00000512063.1:p.Asp424Asn | |
| ENST00000695624.1:n.581G>A | ||
| ENST00000695625.1:c.1276G>A | ENSP00000512064.1:p.Asp426Asn | |
| ENST00000695626.1:c.248G>A | ENSP00000512065.1:p.Arg83Gln | |
| ENST00000695627.1:c.289G>A | ENSP00000512066.1:p.Asp97Asn | |
| ENST00000695628.1:c.190+652G>A | ENSP00000512067.1:n.190+652G>A | |
| ENST00000695629.1:c.190+652G>A | ENSP00000512068.1:n.190+652G>A | |
| ENST00000695630.1:c.285G>A | ||
| ENST00000695631.1:c.114+1453G>A | ||
| ENST00000695632.1:n.293G>A | ||
| ENST00000703407.1:c.1038+1517G>A | ENSP00000512057.1:n.1038+1517G>A | |
| ENST00000308731.8:c.1276G>A MANE Select | ENSP00000308176.8:p.Asp426Asn | |
| ENST00000308731.7:c.1276G>A | ENSP00000308176.7:p.Asp426Asn | |
| ENST00000372880.5:c.1038+1517G>A | ENSP00000361971.1:n.1038+1517G>A | |
| ENST00000470329.1:n.226G>A | ||
| ENST00000618050.4:c.1276G>A | ENSP00000479125.1:p.Asp426Asn | |
| ENST00000621635.4:c.1378G>A | ENSP00000483570.1:p.Asp460Asn | |
| NM_000061.2:c.1276G>A , LRG_128t1:c.1276G>A | NP_000052.1:p.Asp426Asn | |
| NM_001287344.1:c.1378G>A | NP_001274273.1:p.Asp460Asn | |
| NM_001287345.1:c.1038+1517G>A | NP_001274274.1:n.1038+1517G>A | |
| NM_000061.3:c.1276G>A MANE Select | NP_000052.1:p.Asp426Asn | |
| NM_001287344.2:c.1378G>A | NP_001274273.1:p.Asp460Asn | |
| NM_001287345.2:c.1038+1517G>A | NP_001274274.1:n.1038+1517G>A |