Linked Data
ClinVar Variation Id:
513279
dbSNP Id:
rs372443030
ExAC:
11:299404 C / T
gnomAD v2:
11-299404-C-T
gnomAD v3:
11-299404-C-T
gnomAD v4:
11-299404-C-T
MyVariant Identifiers:
chr11:g.299404C>T (hg19)
chr11:g.299404_299405delinsTG (hg19)
chr11:g.299404C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299404C>T , CM000673.2:g.299404C>T | GRCh38 |
| NC_000011.9:g.299404C>T , CM000673.1:g.299404C>T | GRCh37 |
| NC_000011.8:g.289404C>T | NCBI36 |
| NG_032892.1:g.5123G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.87G>A MANE Select | ENSP00000372059.2:p.Pro29= | |
| NM_001025295.2:c.87G>A | NP_001020466.1:p.Pro29= | |
| NM_001025295.3:c.87G>A MANE Select | NP_001020466.1:p.Pro29= |