Linked Data
dbSNP Id:
rs914555532
gnomAD v2:
19-57742481-C-G
gnomAD v3:
19-57231113-C-G
gnomAD v4:
19-57231113-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.57231113C>G , CM000681.2:g.57231113C>G | GRCh38 |
| NC_000019.9:g.57742481C>G , CM000681.1:g.57742481C>G | GRCh37 |
| NC_000019.8:g.62434293C>G | NCBI36 |
| NG_012134.1:g.5105C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302804.12:c.-136C>G MANE Select | ENSP00000302898.6:n.-136C>G | |
| ENST00000302804.11:c.-136C>G | ENSP00000302898.6:n.-136C>G | |
| ENST00000415300.6:c.-1C>G | ENSP00000407162.1:n.-1C>G | |
| ENST00000448930.5:c.-52C>G | ENSP00000406798.2:n.-52C>G | |
| NM_001015878.1:c.-136C>G | NP_001015878.1:n.-136C>G | |
| NM_001015879.1:c.-1C>G | NP_001015879.1:n.-1C>G | |
| NM_003160.2:c.-51C>G | NP_003151.2:n.-51C>G | |
| XR_430209.2:n.754C>G | ||
| XR_430209.3:n.797C>G | ||
| NM_001015878.2:c.-136C>G MANE Select | NP_001015878.1:n.-136C>G | |
| NM_001015879.2:c.-1C>G | NP_001015879.1:n.-1C>G | |
| NM_003160.3:c.-51C>G | NP_003151.2:n.-51C>G |