Linked Data
dbSNP Id:
rs1357945670
gnomAD v2:
11-116626314-A-T
gnomAD v3:
11-116755598-A-T
gnomAD v4:
11-116755598-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116755598A>T , CM000673.2:g.116755598A>T | GRCh38 |
| NC_000011.9:g.116626314A>T , CM000673.1:g.116626314A>T | GRCh37 |
| NC_000011.8:g.116131524A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260210.5:c.1766+1548T>A MANE Select | ENSP00000260210.3:n.1766+1548T>A | |
| ENST00000260210.4:c.1766+1548T>A | ENSP00000260210.3:n.1766+1548T>A | |
| ENST00000375445.7:c.1364+1548T>A | ENSP00000364594.3:n.1364+1548T>A | |
| ENST00000419189.1:c.541+1548T>A | ||
| NM_001159736.1:c.1364+1548T>A | NP_001153208.1:n.1364+1548T>A | |
| NM_032725.3:c.1766+1548T>A | NP_116114.1:n.1766+1548T>A | |
| XM_011543035.1:c.1667+1548T>A | XP_011541337.1:n.1667+1548T>A | |
| XM_011543035.2:c.1667+1548T>A | XP_011541337.1:n.1667+1548T>A | |
| NM_032725.4:c.1766+1548T>A MANE Select | NP_116114.1:n.1766+1548T>A | |
| NM_001159736.2:c.1364+1548T>A | NP_001153208.1:n.1364+1548T>A |