Linked Data
ClinVar Variation Id:
1004745
ClinVar RCV Id:
RCV001301504
dbSNP Id:
rs1565631851
gnomAD v2:
11-47372942-C-T
gnomAD v3:
11-47351391-C-T
gnomAD v4:
11-47351391-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351391C>T , CM000673.2:g.47351391C>T | GRCh38 |
| NC_000011.9:g.47372942C>T , CM000673.1:g.47372942C>T | GRCh37 |
| NC_000011.8:g.47329518C>T | NCBI36 |
| NG_007667.1:g.6312G>A , LRG_386:g.6312G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.140G>A MANE Select | ENSP00000442795.1:p.Ser47Asn | |
| ENST00000256993.8:c.140G>A | ENSP00000256993.5:p.Ser47Asn | |
| ENST00000399249.6:c.140G>A | ENSP00000382193.2:p.Ser47Asn | |
| ENST00000544791.1:c.140G>A | ENSP00000444259.1:p.Ser47Asn | |
| ENST00000545968.5:c.140G>A | ENSP00000442795.1:p.Ser47Asn | |
| NM_000256.3:c.140G>A , LRG_386t1:c.140G>A MANE Select | NP_000247.2:p.Ser47Asn | |
| XM_011520117.1:c.140G>A | XP_011518419.1:p.Ser47Asn | |
| XM_011520118.1:c.140G>A | XP_011518420.1:p.Ser47Asn |