Linked Data
gnomAD v4:
11-116748448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116748448C>T , CM000673.2:g.116748448C>T | GRCh38 |
| NC_000011.9:g.116619164C>T , CM000673.1:g.116619164C>T | GRCh37 |
| NC_000011.8:g.116124374C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.*34G>A MANE Select | ENSP00000260210.3:n.*34G>A | |
| ENST00000260210.4:c.*34G>A | ENSP00000260210.3:n.*34G>A | |
| ENST00000375445.7:c.*34G>A | ENSP00000364594.3:n.*34G>A | |
| ENST00000419189.1:c.669G>A | ||
| NM_001159736.1:c.*34G>A | NP_001153208.1:n.*34G>A | |
| NM_032725.3:c.*34G>A | NP_116114.1:n.*34G>A | |
| XM_011543035.1:c.*34G>A | XP_011541337.1:n.*34G>A | |
| XM_011543035.2:c.*34G>A | XP_011541337.1:n.*34G>A | |
| NM_032725.4:c.*34G>A MANE Select | NP_116114.1:n.*34G>A | |
| NM_001159736.2:c.*34G>A | NP_001153208.1:n.*34G>A |