Linked Data
dbSNP Id:
rs2095875805
gnomAD v4:
11-47331759-A-G
MyVariant Identifiers:
chr11:g.47353310A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47331759A>G , CM000673.2:g.47331759A>G | GRCh38 |
| NC_000011.9:g.47353310A>G , CM000673.1:g.47353310A>G | GRCh37 |
| NC_000011.8:g.47309886A>G | NCBI36 |
| NG_007667.1:g.25944T>C , LRG_386:g.25944T>C | |
| NG_029462.1:g.67384A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.*27-43T>C MANE Select | ENSP00000442795.1:n.*27-43T>C | |
| ENST00000256993.8:c.*27-43T>C | ENSP00000256993.5:n.*27-43T>C | |
| ENST00000399249.6:c.*27-43T>C | ENSP00000382193.2:n.*27-43T>C | |
| ENST00000545968.5:c.*27-43T>C | ENSP00000442795.1:n.*27-43T>C | |
| NM_000256.3:c.*27-43T>C , LRG_386t1:c.*27-43T>C MANE Select | NP_000247.2:n.*27-43T>C | |
| XM_011520117.1:c.*27-43T>C | XP_011518419.1:n.*27-43T>C | |
| XM_011520118.1:c.*27-43T>C | XP_011518420.1:n.*27-43T>C |