Linked Data
dbSNP Id:
rs974850319
gnomAD v4:
11-102527686-A-G
MyVariant Identifiers:
chr11:g.102527686A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102527686A>G , CM000673.2:g.102527686A>G | GRCh38 |
| NC_000011.9:g.102398417A>G , CM000673.1:g.102398417A>G | GRCh37 |
| NC_000011.8:g.101903627A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260227.5:c.336-14T>C MANE Select | ENSP00000260227.4:n.336-14T>C | |
| ENST00000260227.4:c.336-14T>C | ENSP00000260227.4:n.336-14T>C | |
| ENST00000531200.1:n.383-14T>C | ||
| ENST00000533366.5:n.386-14T>C | ||
| NM_002423.3:c.336-14T>C | NP_002414.1:n.336-14T>C | |
| NM_002423.4:c.336-14T>C | NP_002414.1:n.336-14T>C | |
| NM_002423.5:c.336-14T>C MANE Select | NP_002414.1:n.336-14T>C |