Linked Data
dbSNP Id:
rs1322178353
gnomAD v2:
19-1103984-C-A
gnomAD v3:
19-1103985-C-A
gnomAD v4:
19-1103985-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1103985C>A , CM000681.2:g.1103985C>A | GRCh38 |
| NC_000019.9:g.1103984C>A , CM000681.1:g.1103984C>A | GRCh37 |
| NC_000019.8:g.1054984C>A | NCBI36 |
| NG_050621.1:g.5060C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706713.1:c.-59C>A | ENSP00000516510.1:n.-59C>A | |
| ENST00000354171.12:c.-59C>A | ENSP00000346103.7:n.-59C>A | |
| ENST00000616066.4:c.-59C>A | ENSP00000485000.1:n.-59C>A | |
| NM_001039847.2:c.-59C>A | NP_001034936.1:n.-59C>A | |
| NM_002085.4:c.-59C>A | NP_002076.2:n.-59C>A |