Linked Data
ClinVar Variation Id:
3182351
ClinVar RCV Id:
RCV004473765
dbSNP Id:
rs762137555
ExAC:
11:120008481 C / T
gnomAD v2:
11-120008481-C-T
gnomAD v3:
11-120137773-C-T
gnomAD v4:
11-120137773-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.120137773C>T , CM000673.2:g.120137773C>T | GRCh38 |
| NC_000011.9:g.120008481C>T , CM000673.1:g.120008481C>T | GRCh37 |
| NC_000011.8:g.119513691C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341846.10:c.259G>A MANE Select | ENSP00000343129.5:p.Asp87Asn | |
| ENST00000341846.9:c.259G>A | ENSP00000343129.5:p.Asp87Asn | |
| ENST00000475051.4:c.193+66G>A | ENSP00000433779.1:n.193+66G>A | |
| ENST00000529011.1:c.259G>A | ENSP00000435600.1:p.Asp87Asn | |
| ENST00000529495.1:c.259G>A | ENSP00000433324.1:p.Asp87Asn | |
| ENST00000532833.1:c.259G>A | ENSP00000436567.1:p.Asp87Asn | |
| ENST00000627238.1:c.193+66G>A | ENSP00000485773.1:n.193+66G>A | |
| NM_012101.3:c.259G>A | NP_036233.2:p.Asp87Asn | |
| XM_011542729.1:c.259G>A | XP_011541031.1:p.Asp87Asn | |
| XM_011542730.1:c.259G>A | XP_011541032.1:p.Asp87Asn | |
| XM_011542731.1:c.259G>A | XP_011541033.1:p.Asp87Asn | |
| XM_011542732.1:c.259G>A | XP_011541034.1:p.Asp87Asn | |
| XR_948100.1:n.190-574C>T | ||
| XR_948100.2:n.190-574C>T | ||
| NM_012101.4:c.259G>A MANE Select | NP_036233.2:p.Asp87Asn |