Linked Data
dbSNP Id:
rs756014347
ExAC:
19:57742477 A / G
gnomAD v2:
19-57742477-A-G
gnomAD v3:
19-57231109-A-G
gnomAD v4:
19-57231109-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57231109A>G , CM000681.2:g.57231109A>G | GRCh38 |
| NC_000019.9:g.57742477A>G , CM000681.1:g.57742477A>G | GRCh37 |
| NC_000019.8:g.62434289A>G | NCBI36 |
| NG_012134.1:g.5101A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302804.12:c.-140A>G MANE Select | ENSP00000302898.6:n.-140A>G | |
| ENST00000302804.11:c.-140A>G | ENSP00000302898.6:n.-140A>G | |
| ENST00000415300.6:c.-5A>G | ENSP00000407162.1:n.-5A>G | |
| ENST00000448930.5:c.-56A>G | ENSP00000406798.2:n.-56A>G | |
| NM_001015878.1:c.-140A>G | NP_001015878.1:n.-140A>G | |
| NM_001015879.1:c.-5A>G | NP_001015879.1:n.-5A>G | |
| NM_003160.2:c.-55A>G | NP_003151.2:n.-55A>G | |
| XR_430209.2:n.750A>G | ||
| XR_430209.3:n.793A>G | ||
| NM_001015878.2:c.-140A>G MANE Select | NP_001015878.1:n.-140A>G | |
| NM_001015879.2:c.-5A>G | NP_001015879.1:n.-5A>G | |
| NM_003160.3:c.-55A>G | NP_003151.2:n.-55A>G |