Linked Data
ClinVar Variation Id:
17730
ClinVar RCV Id:
RCV000019304
dbSNP Id:
rs11276
ExAC:
12:14993439 C / T
gnomAD v2:
12-14993439-C-T
gnomAD v3:
12-14840505-C-T
gnomAD v4:
12-14840505-C-T
PubMed:
PMID:11001920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14840505C>T , CM000674.2:g.14840505C>T | GRCh38 |
| NC_000012.11:g.14993439C>T , CM000674.1:g.14993439C>T | GRCh37 |
| NC_000012.10:g.14884706C>T | NCBI36 |
| NG_007477.2:g.7975G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228936.6:c.793G>A (ART4) MANE Select | ENSP00000228936.4:p.Asp265Asn | |
| ENST00000648334.1:n.125+10826C>T (C12orf60) | ||
| ENST00000228936.4:c.793G>A (ART4) | ENSP00000228936.4:p.Asp265Asn | |
| ENST00000420600.1:c.742G>A (ART4) | ENSP00000405689.1:p.Asp248Asn | |
| ENST00000430129.6:c.165+577G>A (ART4) | ENSP00000412735.2:n.165+577G>A | |
| ENST00000527783.1:n.75+36754C>T (C12orf60) | ||
| ENST00000533472.1:n.86+36754C>T (C12orf60) | ||
| ENST00000544616.5:c.93+2465G>A (ART4) | ENSP00000442877.1:n.93+2465G>A | |
| NM_021071.2:c.793G>A (ART4) | NP_066549.2:p.Asp265Asn | |
| NM_001354646.1:c.793G>A (ART4) | NP_001341575.1:p.Asp265Asn | |
| NM_021071.3:c.793G>A (ART4) | NP_066549.2:p.Asp265Asn | |
| NM_021071.4:c.793G>A (ART4) MANE Select | NP_066549.2:p.Asp265Asn | |
| NM_001354646.2:c.793G>A (ART4) | NP_001341575.1:p.Asp265Asn |