Linked Data
dbSNP Id:
rs1800803
gnomAD v2:
4-100495581-A-T
gnomAD v3:
4-99574424-A-T
gnomAD v4:
4-99574424-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99574424A>T , CM000666.2:g.99574424A>T | GRCh38 |
| NC_000004.11:g.100495581A>T , CM000666.1:g.100495581A>T | GRCh37 |
| NC_000004.10:g.100714604A>T | NCBI36 |
| NG_011469.1:g.15342A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457717.6:c.-101-385A>T | ENSP00000400821.1:n.-101-385A>T | |
| ENST00000505094.6:c.-189+3559A>T | ENSP00000422782.2:n.-189+3559A>T | |
| ENST00000511045.6:c.-188-7481A>T | ENSP00000427679.2:n.-188-7481A>T | |
| ENST00000511610.6:c.-101-385A>T | ENSP00000422178.2:n.-101-385A>T | |
| ENST00000457717.5:c.-101-385A>T | ENSP00000400821.1:n.-101-385A>T | |
| ENST00000504724.1:c.*327-385A>T | ENSP00000422667.1:n.*327-385A>T | |
| ENST00000505094.5:c.*151+3559A>T | ENSP00000422782.1:n.*151+3559A>T | |
| ENST00000505142.5:c.*90-385A>T | ENSP00000425987.1:n.*90-385A>T | |
| ENST00000506883.5:c.92-7481A>T | ENSP00000426755.1:n.92-7481A>T | |
| ENST00000511045.5:c.143-7481A>T | ENSP00000427679.1:n.143-7481A>T | |
| ENST00000511610.5:c.*90-385A>T | ENSP00000422178.1:n.*90-385A>T | |
| ENST00000513404.5:c.92-385A>T | ENSP00000424972.1:n.92-385A>T | |
| ENST00000515141.5:c.143-385A>T | ENSP00000425642.1:n.143-385A>T | |
| NM_000253.3:c.-101-385A>T | NP_000244.2:n.-101-385A>T | |
| NM_001300785.1:c.143-7481A>T | NP_001287714.1:n.143-7481A>T | |
| NM_000253.4:c.-101-385A>T | NP_000244.2:n.-101-385A>T | |
| NM_001300785.2:c.-188-7481A>T | NP_001287714.2:n.-188-7481A>T |