ClinVar RCV:
ClinVar Variation:
COSMIC:
COSN8870032
COSN15304729
COSN19622549
COSN20281902
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41243022 (NFE)
Genomes Max Group AF
0.40783907 (NFE)
Exomes Max Group AF
0.41249369 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99339632T>C , CM000666.2:g.99339632T>C | GRCh38 |
| NC_000004.11:g.100260789T>C , CM000666.1:g.100260789T>C | GRCh37 |
| NC_000004.10:g.100479812T>C | NCBI36 |
| NG_011718.1:g.18129A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.6:c.1048A>G (ADH1C) MANE Select | ENSP00000426083.1:p.Ile350Val | |
| ENST00000639454.1:c.18+13026A>G (ADH1B) | ENSP00000491622.1:n.18+13026A>G | |
| ENST00000515683.5:c.1048A>G (ADH1C) | ENSP00000426083.1:p.Ile350Val | |
| NM_000669.4:c.1048A>G (ADH1C) | NP_000660.1:p.Ile350Val | |
| NR_133005.1:n.1374A>G (ADH1C) | ||
| XM_011531588.1:c.946A>G (ADH1C) | XP_011529890.1:p.Ile316Val | |
| XM_011531589.1:c.928A>G (ADH1C) | XP_011529891.1:p.Ile310Val | |
| NM_000669.5:c.1048A>G (ADH1C) MANE Select | NP_000660.1:p.Ile350Val | |
| NR_133005.2:n.1075A>G (ADH1C) |