Linked Data
dbSNP Id:
rs762140129
ExAC:
17:41063456 C / G
gnomAD v2:
17-41063456-C-G
gnomAD v4:
17-42911439-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911439C>G , CM000679.2:g.42911439C>G | GRCh38 |
| NC_000017.10:g.41063456C>G , CM000679.1:g.41063456C>G | GRCh37 |
| NC_000017.9:g.38316982C>G | NCBI36 |
| NG_011808.1:g.15642C>G , LRG_147:g.15642C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.*13C>G MANE Select | ENSP00000253801.1:n.*13C>G | |
| ENST00000253801.6:c.*13C>G | ENSP00000253801.1:n.*13C>G | |
| ENST00000585489.1:c.*479C>G | ENSP00000466202.1:n.*479C>G | |
| NM_000151.3:c.*13C>G | NP_000142.2:n.*13C>G | |
| NM_001270397.1:c.*479C>G | NP_001257326.1:n.*479C>G | |
| NM_000151.4:c.*13C>G MANE Select | NP_000142.2:n.*13C>G | |
| NM_001270397.2:c.*479C>G | NP_001257326.1:n.*479C>G |