Linked Data
dbSNP Id:
rs1254480525
gnomAD v2:
4-100262074-A-G
gnomAD v3:
4-99340917-A-G
gnomAD v4:
4-99340917-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99340917A>G , CM000666.2:g.99340917A>G | GRCh38 |
| NC_000004.11:g.100262074A>G , CM000666.1:g.100262074A>G | GRCh37 |
| NC_000004.10:g.100481097A>G | NCBI36 |
| NG_011718.1:g.16844T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515683.6:c.829-207T>C (ADH1C) MANE Select | ENSP00000426083.1:n.829-207T>C | |
| ENST00000639454.1:c.18+11741T>C (ADH1B) | ENSP00000491622.1:n.18+11741T>C | |
| ENST00000515683.5:c.829-207T>C (ADH1C) | ENSP00000426083.1:n.829-207T>C | |
| NM_000669.4:c.829-207T>C (ADH1C) | NP_000660.1:n.829-207T>C | |
| NR_133005.1:n.1155-207T>C (ADH1C) | ||
| XM_011531588.1:c.727-207T>C (ADH1C) | XP_011529890.1:n.727-207T>C | |
| XM_011531589.1:c.709-207T>C (ADH1C) | XP_011529891.1:n.709-207T>C | |
| NM_000669.5:c.829-207T>C (ADH1C) MANE Select | NP_000660.1:n.829-207T>C | |
| NR_133005.2:n.856-207T>C (ADH1C) |