Linked Data
dbSNP Id:
rs372443030
ExAC:
11:299404 C / G
gnomAD v2:
11-299404-C-G
gnomAD v4:
11-299404-C-G
MyVariant Identifiers:
chr11:g.299404C>G (hg19)
chr11:g.299404_299405delinsGG (hg19)
chr11:g.299404C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299404C>G , CM000673.2:g.299404C>G | GRCh38 |
| NC_000011.9:g.299404C>G , CM000673.1:g.299404C>G | GRCh37 |
| NC_000011.8:g.289404C>G | NCBI36 |
| NG_032892.1:g.5123G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.87G>C MANE Select | ENSP00000372059.2:p.Pro29= | |
| NM_001025295.2:c.87G>C | NP_001020466.1:p.Pro29= | |
| NM_001025295.3:c.87G>C MANE Select | NP_001020466.1:p.Pro29= |