gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40768045 (NFE)
Genomes Max Group AF
0.40768045 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99340884C>G , CM000666.2:g.99340884C>G | GRCh38 |
| NC_000004.11:g.100262041C>G , CM000666.1:g.100262041C>G | GRCh37 |
| NC_000004.10:g.100481064C>G | NCBI36 |
| NG_011718.1:g.16877G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.6:c.829-174G>C (ADH1C) MANE Select | ENSP00000426083.1:n.829-174G>C | |
| ENST00000639454.1:c.18+11774G>C (ADH1B) | ENSP00000491622.1:n.18+11774G>C | |
| ENST00000515683.5:c.829-174G>C (ADH1C) | ENSP00000426083.1:n.829-174G>C | |
| NM_000669.4:c.829-174G>C (ADH1C) | NP_000660.1:n.829-174G>C | |
| NR_133005.1:n.1155-174G>C (ADH1C) | ||
| XM_011531588.1:c.727-174G>C (ADH1C) | XP_011529890.1:n.727-174G>C | |
| XM_011531589.1:c.709-174G>C (ADH1C) | XP_011529891.1:n.709-174G>C | |
| NM_000669.5:c.829-174G>C (ADH1C) MANE Select | NP_000660.1:n.829-174G>C | |
| NR_133005.2:n.856-174G>C (ADH1C) |