Linked Data
ClinVar Variation Id:
18220
dbSNP Id:
rs78538497
ExAC:
4:74280859 A / T
gnomAD v2:
4-74280859-A-T
gnomAD v3:
4-73415142-A-T
gnomAD v4:
4-73415142-A-T
PubMed:
PMID:1946412
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73415142A>T , CM000666.2:g.73415142A>T | GRCh38 |
| NC_000004.11:g.74280859A>T , CM000666.1:g.74280859A>T | GRCh37 |
| NC_000004.10:g.74499723A>T | NCBI36 |
| NG_009291.1:g.15888A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1166A>T MANE Select | ENSP00000295897.4:p.Asp389Val | |
| ENST00000295897.8:c.1166A>T | ENSP00000295897.4:p.Asp389Val | |
| ENST00000401494.7:c.821A>T | ENSP00000384695.3:p.Asp274Val | |
| ENST00000415165.6:c.590A>T | ENSP00000401820.2:p.Asp197Val | |
| ENST00000476441.6:c.*445A>T | ENSP00000423727.1:n.*445A>T | |
| ENST00000484992.1:n.486A>T | ||
| ENST00000503124.5:c.716A>T | ENSP00000421027.1:p.Asp239Val | |
| ENST00000504043.1:n.169A>T | ||
| ENST00000505649.5:n.852A>T | ||
| ENST00000509063.5:c.1166A>T | ENSP00000422784.1:p.Asp389Val | |
| ENST00000511370.1:c.699A>T | ||
| ENST00000621085.4:c.527A>T | ENSP00000483421.1:p.Asp176Val | |
| ENST00000621628.4:c.527A>T | ENSP00000480485.1:p.Asp176Val | |
| NM_000477.5:c.1166A>T | NP_000468.1:p.Asp389Val | |
| NM_000477.6:c.1166A>T | NP_000468.1:p.Asp389Val | |
| NM_000477.7:c.1166A>T MANE Select | NP_000468.1:p.Asp389Val |