Linked Data
dbSNP Id:
rs1951681
gnomAD v2:
14-32851025-G-A
gnomAD v3:
14-32381819-G-A
gnomAD v4:
14-32381819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.32381819G>A , CM000676.2:g.32381819G>A | GRCh38 |
| NC_000014.8:g.32851025G>A , CM000676.1:g.32851025G>A | GRCh37 |
| NC_000014.7:g.31920776G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280979.9:c.-34-51641G>A MANE Select | ENSP00000280979.4:n.-34-51641G>A | |
| ENST00000280979.8:c.-34-51641G>A | ENSP00000280979.4:n.-34-51641G>A | |
| ENST00000556037.1:n.60-51641G>A | ||
| ENST00000557102.1:c.-178-20179G>A | ENSP00000451146.1:n.-178-20179G>A | |
| ENST00000557272.1:c.-34-51641G>A | ENSP00000451247.1:n.-34-51641G>A | |
| ENST00000557354.5:c.-34-51641G>A | ENSP00000450531.1:n.-34-51641G>A | |
| NM_004274.4:c.-34-51641G>A | NP_004265.3:n.-34-51641G>A | |
| XM_005268219.3:c.-34-51641G>A | XP_005268276.1:n.-34-51641G>A | |
| XM_017021808.2:c.-34-51641G>A | XP_016877297.1:n.-34-51641G>A | |
| XM_024449754.1:c.-178-20179G>A | XP_024305522.1:n.-178-20179G>A | |
| XM_024449755.1:c.-35+41341G>A | XP_024305523.1:n.-35+41341G>A | |
| NM_004274.5:c.-34-51641G>A MANE Select | NP_004265.3:n.-34-51641G>A |