Linked Data
ClinVar Variation Id:
314735
ClinVar RCV Id:
RCV000377428
dbSNP Id:
rs114174103
ExAC:
14:88400275 T / A
gnomAD v2:
14-88400275-T-A
gnomAD v3:
14-87933931-T-A
gnomAD v4:
14-87933931-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87933931T>A , CM000676.2:g.87933931T>A | GRCh38 |
| NC_000014.8:g.88400275T>A , CM000676.1:g.88400275T>A | GRCh37 |
| NC_000014.7:g.87470028T>A | NCBI36 |
| NG_011853.2:g.64633A>T | |
| NG_011853.3:g.64633A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261304.7:c.*801A>T MANE Select | ENSP00000261304.2:n.*801A>T | |
| ENST00000261304.6:c.*801A>T | ENSP00000261304.2:n.*801A>T | |
| ENST00000544807.6:c.*42A>T | ENSP00000437513.2:n.*42A>T | |
| ENST00000555000.5:c.*42A>T | ENSP00000450472.1:n.*42A>T | |
| NM_000153.3:c.*801A>T | NP_000144.2:n.*801A>T | |
| NM_001201401.1:c.*801A>T | NP_001188330.1:n.*801A>T | |
| NM_001201402.1:c.*801A>T | NP_001188331.1:n.*801A>T | |
| XM_011536618.1:c.*801A>T | XP_011534920.1:n.*801A>T | |
| XM_011536618.2:c.*801A>T | XP_011534920.1:n.*801A>T | |
| NM_000153.4:c.*801A>T MANE Select | NP_000144.2:n.*801A>T | |
| NM_001201401.2:c.*801A>T | NP_001188330.1:n.*801A>T | |
| NM_001201402.2:c.*801A>T | NP_001188331.1:n.*801A>T |