Linked Data
ClinVar Variation Id:
18179
ClinVar RCV Id:
RCV000019810
dbSNP Id:
rs1693482
ExAC:
4:100263965 C / T
gnomAD v2:
4-100263965-C-T
gnomAD v3:
4-99342808-C-T
gnomAD v4:
4-99342808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99342808C>T , CM000666.2:g.99342808C>T | GRCh38 |
| NC_000004.11:g.100263965C>T , CM000666.1:g.100263965C>T | GRCh37 |
| NC_000004.10:g.100482988C>T | NCBI36 |
| NG_011718.1:g.14953G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515683.6:c.815G>A (ADH1C) MANE Select | ENSP00000426083.1:p.Arg272Gln | |
| ENST00000639454.1:c.18+9850G>A (ADH1B) | ENSP00000491622.1:n.18+9850G>A | |
| ENST00000515683.5:c.815G>A (ADH1C) | ENSP00000426083.1:p.Arg272Gln | |
| NM_000669.4:c.815G>A (ADH1C) | NP_000660.1:p.Arg272Gln | |
| NR_133005.1:n.1154+31G>A (ADH1C) | ||
| XM_011531588.1:c.713G>A (ADH1C) | XP_011529890.1:p.Arg238Gln | |
| XM_011531589.1:c.695G>A (ADH1C) | XP_011529891.1:p.Arg232Gln | |
| NM_000669.5:c.815G>A (ADH1C) MANE Select | NP_000660.1:p.Arg272Gln | |
| NR_133005.2:n.855+31G>A (ADH1C) |