Revel Score:
ENST00000377143
0.347
ENST00000396806 (MANE Select)
0.347
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29374410T>A , CM000668.2:g.29374410T>A | GRCh38 |
| NC_000006.11:g.29342187T>A , CM000668.1:g.29342187T>A | GRCh37 |
| NC_000006.10:g.29450166T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377154.1:c.-82-18133A>T (OR5V1) | ENSP00000366359.1:n.-82-18133A>T | |
| ENST00000396806.3:c.878A>T (OR12D3) MANE Select | ENSP00000380023.3:p.Asn293Ile | |
| NM_030959.2:c.878A>T (OR12D3) | NP_112221.1:p.Asn293Ile | |
| XM_011514929.1:c.-82-18133A>T (OR5V1) | XP_011513231.1:n.-82-18133A>T | |
| XM_011514930.1:c.-82-18133A>T (OR5V1) | XP_011513232.1:n.-82-18133A>T | |
| XM_011514931.1:c.-82-18133A>T (OR5V1) | XP_011513233.1:n.-82-18133A>T | |
| XM_011514932.1:c.-82-18133A>T (OR5V1) | XP_011513234.1:n.-82-18133A>T | |
| XM_011514930.2:c.-82-18133A>T (OR5V1) | XP_011513232.1:n.-82-18133A>T | |
| XM_024446562.1:c.-82-18133A>T (OR5V1) | XP_024302330.1:n.-82-18133A>T | |
| NM_030959.3:c.878A>T (OR12D3) MANE Select | NP_112221.1:p.Asn293Ile |