Linked Data
ClinVar Variation Id:
188815
dbSNP Id:
rs750524447
ExAC:
14:88434678 C / T
gnomAD v2:
14-88434678-C-T
gnomAD v3:
14-87968334-C-T
gnomAD v4:
14-87968334-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87968334C>T , CM000676.2:g.87968334C>T | GRCh38 |
| NC_000014.8:g.88434678C>T , CM000676.1:g.88434678C>T | GRCh37 |
| NC_000014.7:g.87504431C>T | NCBI36 |
| NG_011853.2:g.30230G>A | |
| NG_011853.3:g.30230G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.908+1G>A MANE Select | ENSP00000261304.2:n.908+1G>A | |
| ENST00000261304.6:c.908+1G>A | ENSP00000261304.2:n.908+1G>A | |
| ENST00000393568.8:c.839+1G>A | ENSP00000377198.4:n.839+1G>A | |
| ENST00000393569.6:c.830+1G>A | ENSP00000377199.2:n.830+1G>A | |
| ENST00000474294.6:n.898+1G>A | ||
| ENST00000544807.6:c.740+1G>A | ENSP00000437513.2:n.740+1G>A | |
| ENST00000555000.5:c.275+1G>A | ENSP00000450472.1:n.275+1G>A | |
| ENST00000557316.5:c.*306+1G>A | ENSP00000452314.1:n.*306+1G>A | |
| ENST00000622264.4:c.898+1G>A | ||
| NM_000153.3:c.908+1G>A | NP_000144.2:n.908+1G>A | |
| NM_001201401.1:c.839+1G>A | NP_001188330.1:n.839+1G>A | |
| NM_001201402.1:c.830+1G>A | NP_001188331.1:n.830+1G>A | |
| XM_011536618.1:c.740+1G>A | XP_011534920.1:n.740+1G>A | |
| XM_011536618.2:c.740+1G>A | XP_011534920.1:n.740+1G>A | |
| NM_000153.4:c.908+1G>A MANE Select | NP_000144.2:n.908+1G>A | |
| NM_001201401.2:c.839+1G>A | NP_001188330.1:n.839+1G>A | |
| NM_001201402.2:c.830+1G>A | NP_001188331.1:n.830+1G>A |