Linked Data
dbSNP Id:
rs755882503
ExAC:
12:14993810 G / A
gnomAD v2:
12-14993810-G-A
gnomAD v3:
12-14840876-G-A
gnomAD v4:
12-14840876-G-A
COSMIC:
COSM4663571
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14840876G>A , CM000674.2:g.14840876G>A | GRCh38 |
| NC_000012.11:g.14993810G>A , CM000674.1:g.14993810G>A | GRCh37 |
| NC_000012.10:g.14885077G>A | NCBI36 |
| NG_007477.2:g.7604C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228936.6:c.422C>T (ART4) MANE Select | ENSP00000228936.4:p.Ala141Val | |
| ENST00000648334.1:n.125+11197G>A (C12orf60) | ||
| ENST00000228936.4:c.422C>T (ART4) | ENSP00000228936.4:p.Ala141Val | |
| ENST00000420600.1:c.371C>T (ART4) | ENSP00000405689.1:p.Ala124Val | |
| ENST00000430129.6:c.165+206C>T (ART4) | ENSP00000412735.2:n.165+206C>T | |
| ENST00000527783.1:n.75+37125G>A (C12orf60) | ||
| ENST00000533472.1:n.86+37125G>A (C12orf60) | ||
| ENST00000544616.5:c.93+2094C>T (ART4) | ENSP00000442877.1:n.93+2094C>T | |
| NM_021071.2:c.422C>T (ART4) | NP_066549.2:p.Ala141Val | |
| NM_001354646.1:c.422C>T (ART4) | NP_001341575.1:p.Ala141Val | |
| NM_021071.3:c.422C>T (ART4) | NP_066549.2:p.Ala141Val | |
| NM_021071.4:c.422C>T (ART4) MANE Select | NP_066549.2:p.Ala141Val | |
| NM_001354646.2:c.422C>T (ART4) | NP_001341575.1:p.Ala141Val |