Linked Data
ClinVar Variation Id:
255373
dbSNP Id:
rs189853941
ExAC:
14:88459295 C / T
gnomAD v2:
14-88459295-C-T
gnomAD v3:
14-87992951-C-T
gnomAD v4:
14-87992951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87992951C>T , CM000676.2:g.87992951C>T | GRCh38 |
| NC_000014.8:g.88459295C>T , CM000676.1:g.88459295C>T | GRCh37 |
| NC_000014.7:g.87529048C>T | NCBI36 |
| NG_011853.2:g.5613G>A | |
| NG_011853.3:g.5613G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.195+19G>A MANE Select | ENSP00000261304.2:n.195+19G>A | |
| ENST00000261304.6:c.195+19G>A | ENSP00000261304.2:n.195+19G>A | |
| ENST00000393568.8:c.195+19G>A | ENSP00000377198.4:n.195+19G>A | |
| ENST00000393569.6:c.117+432G>A | ENSP00000377199.2:n.117+432G>A | |
| ENST00000474294.6:n.185+19G>A | ||
| ENST00000554372.5:c.195+19G>A | ENSP00000451884.1:n.195+19G>A | |
| ENST00000556879.5:c.153+19G>A | ENSP00000452208.1:n.153+19G>A | |
| ENST00000557316.5:c.195+19G>A | ENSP00000452314.1:n.195+19G>A | |
| ENST00000622264.4:c.185+19G>A | ||
| NM_000153.3:c.195+19G>A | NP_000144.2:n.195+19G>A | |
| NM_001201401.1:c.195+19G>A | NP_001188330.1:n.195+19G>A | |
| NM_001201402.1:c.117+432G>A | NP_001188331.1:n.117+432G>A | |
| NM_000153.4:c.195+19G>A MANE Select | NP_000144.2:n.195+19G>A | |
| NM_001201401.2:c.195+19G>A | NP_001188330.1:n.195+19G>A | |
| NM_001201402.2:c.117+432G>A | NP_001188331.1:n.117+432G>A |