Linked Data
dbSNP Id:
rs753699386
ExAC:
12:14993897 G / A
gnomAD v2:
12-14993897-G-A
gnomAD v3:
12-14840963-G-A
gnomAD v4:
12-14840963-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14840963G>A , CM000674.2:g.14840963G>A | GRCh38 |
| NC_000012.11:g.14993897G>A , CM000674.1:g.14993897G>A | GRCh37 |
| NC_000012.10:g.14885164G>A | NCBI36 |
| NG_007477.2:g.7517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228936.6:c.335C>T (ART4) MANE Select | ENSP00000228936.4:p.Pro112Leu | |
| ENST00000648334.1:n.125+11284G>A (C12orf60) | ||
| ENST00000228936.4:c.335C>T (ART4) | ENSP00000228936.4:p.Pro112Leu | |
| ENST00000420600.1:c.284C>T (ART4) | ENSP00000405689.1:p.Pro95Leu | |
| ENST00000430129.6:c.165+119C>T (ART4) | ENSP00000412735.2:n.165+119C>T | |
| ENST00000527783.1:n.75+37212G>A (C12orf60) | ||
| ENST00000533472.1:n.86+37212G>A (C12orf60) | ||
| ENST00000544616.5:c.93+2007C>T (ART4) | ENSP00000442877.1:n.93+2007C>T | |
| NM_021071.2:c.335C>T (ART4) | NP_066549.2:p.Pro112Leu | |
| NM_001354646.1:c.335C>T (ART4) | NP_001341575.1:p.Pro112Leu | |
| NM_021071.3:c.335C>T (ART4) | NP_066549.2:p.Pro112Leu | |
| NM_021071.4:c.335C>T (ART4) MANE Select | NP_066549.2:p.Pro112Leu | |
| NM_001354646.2:c.335C>T (ART4) | NP_001341575.1:p.Pro112Leu |