Linked Data
ClinVar Variation Id:
1187263
ClinVar RCV Id:
RCV001546646
dbSNP Id:
rs771359224
ExAC:
14:29237957 A / T
gnomAD v2:
14-29237957-A-T
gnomAD v3:
14-28768751-A-T
gnomAD v4:
14-28768751-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768751A>T , CM000676.2:g.28768751A>T | GRCh38 |
| NC_000014.8:g.29237957A>T , CM000676.1:g.29237957A>T | GRCh37 |
| NC_000014.7:g.28307708A>T | NCBI36 |
| NG_009367.1:g.6671A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.*2A>T | ENSP00000516406.1:n.*2A>T | |
| ENST00000313071.7:c.*2A>T MANE Select | ENSP00000339004.3:n.*2A>T | |
| ENST00000313071.6:c.*2A>T | ENSP00000339004.3:n.*2A>T | |
| NM_005249.4:c.*2A>T | NP_005240.3:n.*2A>T | |
| NM_005249.5:c.*2A>T MANE Select | NP_005240.3:n.*2A>T |