Linked Data
ClinVar Variation Id:
95263
ClinVar RCV Id:
RCV000081276
dbSNP Id:
rs151157846
ExAC:
14:29237968 C / A
gnomAD v2:
14-29237968-C-A
gnomAD v3:
14-28768762-C-A
gnomAD v4:
14-28768762-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28768762C>A , CM000676.2:g.28768762C>A | GRCh38 |
| NC_000014.8:g.29237968C>A , CM000676.1:g.29237968C>A | GRCh37 |
| NC_000014.7:g.28307719C>A | NCBI36 |
| NG_009367.1:g.6682C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.*13C>A | ENSP00000516406.1:n.*13C>A | |
| ENST00000313071.7:c.*13C>A MANE Select | ENSP00000339004.3:n.*13C>A | |
| ENST00000313071.6:c.*13C>A | ENSP00000339004.3:n.*13C>A | |
| NM_005249.4:c.*13C>A | NP_005240.3:n.*13C>A | |
| NM_005249.5:c.*13C>A MANE Select | NP_005240.3:n.*13C>A |