Linked Data
dbSNP Id:
rs557391300
gnomAD v2:
4-100262095-C-T
gnomAD v3:
4-99340938-C-T
gnomAD v4:
4-99340938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99340938C>T , CM000666.2:g.99340938C>T | GRCh38 |
| NC_000004.11:g.100262095C>T , CM000666.1:g.100262095C>T | GRCh37 |
| NC_000004.10:g.100481118C>T | NCBI36 |
| NG_011718.1:g.16823G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.6:c.829-228G>A (ADH1C) MANE Select | ENSP00000426083.1:n.829-228G>A | |
| ENST00000639454.1:c.18+11720G>A (ADH1B) | ENSP00000491622.1:n.18+11720G>A | |
| ENST00000515683.5:c.829-228G>A (ADH1C) | ENSP00000426083.1:n.829-228G>A | |
| NM_000669.4:c.829-228G>A (ADH1C) | NP_000660.1:n.829-228G>A | |
| NR_133005.1:n.1155-228G>A (ADH1C) | ||
| XM_011531588.1:c.727-228G>A (ADH1C) | XP_011529890.1:n.727-228G>A | |
| XM_011531589.1:c.709-228G>A (ADH1C) | XP_011529891.1:n.709-228G>A | |
| NM_000669.5:c.829-228G>A (ADH1C) MANE Select | NP_000660.1:n.829-228G>A | |
| NR_133005.2:n.856-228G>A (ADH1C) |