Linked Data
ClinVar Variation Id:
268139
dbSNP Id:
rs886041076
gnomAD v2:
4-77097589-C-T
gnomAD v3:
4-76176436-C-T
gnomAD v4:
4-76176436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76176436C>T , CM000666.2:g.76176436C>T | GRCh38 |
| NC_000004.11:g.77097589C>T , CM000666.1:g.77097589C>T | GRCh37 |
| NC_000004.10:g.77316613C>T | NCBI36 |
| NG_012054.1:g.42447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.680+1G>A | ||
| ENST00000264896.8:c.704+1G>A MANE Select | ENSP00000264896.2:n.704+1G>A | |
| ENST00000638295.1:c.230+1G>A | ENSP00000492288.1:n.230+1G>A | |
| ENST00000638372.1:n.956+1G>A | ||
| ENST00000638603.1:c.704+1G>A | ENSP00000491728.1:n.704+1G>A | |
| ENST00000638663.1:c.704+1G>A | ENSP00000491407.1:n.704+1G>A | |
| ENST00000638680.1:n.2285+1G>A | ||
| ENST00000638843.1:n.697+1G>A | ||
| ENST00000639145.1:c.695+1G>A | ENSP00000492831.1:n.695+1G>A | |
| ENST00000639300.1:c.613-526G>A | ENSP00000492840.1:n.613-526G>A | |
| ENST00000639324.1:n.803+1G>A | ||
| ENST00000639715.1:c.659+1G>A | ||
| ENST00000639738.1:c.276-10135G>A | ENSP00000491792.1:n.276-10135G>A | |
| ENST00000640076.1:n.285+1G>A | ||
| ENST00000640341.1:c.*344+1G>A | ENSP00000492714.1:n.*344+1G>A | |
| ENST00000640634.1:c.825+1G>A | ||
| ENST00000640640.1:c.704+1G>A | ENSP00000492246.1:n.704+1G>A | |
| ENST00000640957.1:c.704+1G>A | ENSP00000492004.1:n.704+1G>A | |
| ENST00000264896.6:c.704+1G>A | ENSP00000264896.2:n.704+1G>A | |
| ENST00000452464.6:c.276-526G>A | ENSP00000399154.2:n.276-526G>A | |
| NM_001204255.1:c.276-526G>A | NP_001191184.1:n.276-526G>A | |
| NM_005506.3:c.704+1G>A | NP_005497.1:n.704+1G>A | |
| NM_005506.4:c.704+1G>A MANE Select | NP_005497.1:n.704+1G>A | |
| NM_001204255.2:c.276-526G>A | NP_001191184.1:n.276-526G>A |