Linked Data
ClinVar Variation Id:
17731
ClinVar RCV Id:
RCV000019305
dbSNP Id:
rs587777831
gnomAD v3:
12-14841155-T-C
gnomAD v4:
12-14841155-T-C
PubMed:
PMID:11724986
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14841155T>C , CM000674.2:g.14841155T>C | GRCh38 |
| NC_000012.11:g.14994089T>C , CM000674.1:g.14994089T>C | GRCh37 |
| NC_000012.10:g.14885356T>C | NCBI36 |
| NG_007477.2:g.7325A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228936.6:c.145-2A>G (ART4) MANE Select | ENSP00000228936.4:n.145-2A>G | |
| ENST00000648334.1:n.125+11476T>C (C12orf60) | ||
| ENST00000228936.4:c.145-2A>G (ART4) | ENSP00000228936.4:n.145-2A>G | |
| ENST00000420600.1:c.94-2A>G (ART4) | ENSP00000405689.1:n.94-2A>G | |
| ENST00000430129.6:c.94-2A>G (ART4) | ENSP00000412735.2:n.94-2A>G | |
| ENST00000527783.1:n.75+37404T>C (C12orf60) | ||
| ENST00000533472.1:n.86+37404T>C (C12orf60) | ||
| ENST00000544616.5:c.93+1815A>G (ART4) | ENSP00000442877.1:n.93+1815A>G | |
| NM_021071.2:c.145-2A>G (ART4) | NP_066549.2:n.145-2A>G | |
| NM_001354646.1:c.145-2A>G (ART4) | NP_001341575.1:n.145-2A>G | |
| NM_021071.3:c.145-2A>G (ART4) | NP_066549.2:n.145-2A>G | |
| NM_021071.4:c.145-2A>G (ART4) MANE Select | NP_066549.2:n.145-2A>G | |
| NM_001354646.2:c.145-2A>G (ART4) | NP_001341575.1:n.145-2A>G |