Linked Data
ClinVar Variation Id:
196165
ClinVar RCV Id:
RCV000176922
dbSNP Id:
rs181227407
ExAC:
14:21863061 T / A
gnomAD v2:
14-21863061-T-A
gnomAD v3:
14-21394902-T-A
gnomAD v4:
14-21394902-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21394902T>A , CM000676.2:g.21394902T>A | GRCh38 |
| NC_000014.8:g.21863061T>A , CM000676.1:g.21863061T>A | GRCh37 |
| NC_000014.7:g.20932901T>A | NCBI36 |
| NG_021249.1:g.47397A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430710.8:c.4553+10A>T | ENSP00000406288.3:n.4553+10A>T | |
| ENST00000555935.2:c.3090+10A>T | ||
| ENST00000557364.6:c.5390+10A>T | ENSP00000451601.1:n.5390+10A>T | |
| ENST00000643469.1:c.5390+10A>T | ENSP00000495070.1:n.5390+10A>T | |
| ENST00000645206.1:n.4546+10A>T | ||
| ENST00000645929.1:c.4553+10A>T | ENSP00000494402.1:n.4553+10A>T | |
| ENST00000646340.1:c.5396+10A>T | ENSP00000496730.1:n.5396+10A>T | |
| ENST00000646647.2:c.5390+10A>T MANE Select | ENSP00000495240.1:n.5390+10A>T | |
| ENST00000399982.6:c.5390+10A>T | ENSP00000382863.2:n.5390+10A>T | |
| ENST00000430710.7:c.4553+10A>T | ENSP00000406288.3:n.4553+10A>T | |
| ENST00000555301.1:n.103+10A>T | ||
| ENST00000557364.5:c.5390+10A>T | ENSP00000451601.1:n.5390+10A>T | |
| NM_001170629.1:c.5390+10A>T | NP_001164100.1:n.5390+10A>T | |
| NM_020920.3:c.4553+10A>T | NP_065971.2:n.4553+10A>T | |
| NM_001170629.2:c.5390+10A>T MANE Select | NP_001164100.1:n.5390+10A>T | |
| NM_020920.4:c.4553+10A>T | NP_065971.2:n.4553+10A>T |