Linked Data
dbSNP Id:
rs1399696642
gnomAD v2:
12-14993684-T-C
gnomAD v3:
12-14840750-T-C
gnomAD v4:
12-14840750-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14840750T>C , CM000674.2:g.14840750T>C | GRCh38 |
| NC_000012.11:g.14993684T>C , CM000674.1:g.14993684T>C | GRCh37 |
| NC_000012.10:g.14884951T>C | NCBI36 |
| NG_007477.2:g.7730A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228936.6:c.548A>G (ART4) MANE Select | ENSP00000228936.4:p.Tyr183Cys | |
| ENST00000648334.1:n.125+11071T>C (C12orf60) | ||
| ENST00000228936.4:c.548A>G (ART4) | ENSP00000228936.4:p.Tyr183Cys | |
| ENST00000420600.1:c.497A>G (ART4) | ENSP00000405689.1:p.Tyr166Cys | |
| ENST00000430129.6:c.165+332A>G (ART4) | ENSP00000412735.2:n.165+332A>G | |
| ENST00000527783.1:n.75+36999T>C (C12orf60) | ||
| ENST00000533472.1:n.86+36999T>C (C12orf60) | ||
| ENST00000544616.5:c.93+2220A>G (ART4) | ENSP00000442877.1:n.93+2220A>G | |
| NM_021071.2:c.548A>G (ART4) | NP_066549.2:p.Tyr183Cys | |
| NM_001354646.1:c.548A>G (ART4) | NP_001341575.1:p.Tyr183Cys | |
| NM_021071.3:c.548A>G (ART4) | NP_066549.2:p.Tyr183Cys | |
| NM_021071.4:c.548A>G (ART4) MANE Select | NP_066549.2:p.Tyr183Cys | |
| NM_001354646.2:c.548A>G (ART4) | NP_001341575.1:p.Tyr183Cys |