Linked Data
ClinVar Variation Id:
17733
ClinVar RCV Id:
RCV000019307
dbSNP Id:
rs587777833
gnomAD v3:
12-14842968-A-G
gnomAD v4:
12-14842968-A-G
PubMed:
PMID:12028057
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14842968A>G , CM000674.2:g.14842968A>G | GRCh38 |
| NC_000012.11:g.14995902A>G , CM000674.1:g.14995902A>G | GRCh37 |
| NC_000012.10:g.14887169A>G | NCBI36 |
| NG_007477.2:g.5512T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228936.6:c.144+2T>C (ART4) MANE Select | ENSP00000228936.4:n.144+2T>C | |
| ENST00000648334.1:n.125+13289A>G (C12orf60) | ||
| ENST00000228936.4:c.144+2T>C (ART4) | ENSP00000228936.4:n.144+2T>C | |
| ENST00000420600.1:c.93+2T>C (ART4) | ENSP00000405689.1:n.93+2T>C | |
| ENST00000430129.6:c.93+2T>C (ART4) | ENSP00000412735.2:n.93+2T>C | |
| ENST00000527783.1:n.75+39217A>G (C12orf60) | ||
| ENST00000533472.1:n.86+39217A>G (C12orf60) | ||
| ENST00000544616.5:c.93+2T>C (ART4) | ENSP00000442877.1:n.93+2T>C | |
| NM_021071.2:c.144+2T>C (ART4) | NP_066549.2:n.144+2T>C | |
| NM_001354646.1:c.144+2T>C (ART4) | NP_001341575.1:n.144+2T>C | |
| NM_021071.3:c.144+2T>C (ART4) | NP_066549.2:n.144+2T>C | |
| NM_021071.4:c.144+2T>C (ART4) MANE Select | NP_066549.2:n.144+2T>C | |
| NM_001354646.2:c.144+2T>C (ART4) | NP_001341575.1:n.144+2T>C |