Linked Data
dbSNP Id:
rs773889729
gnomAD v3:
3-42688186-C-G
gnomAD v4:
3-42688186-C-G
MyVariant Identifiers:
chr3:g.42729678C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42688186C>G , CM000665.2:g.42688186C>G | GRCh38 |
| NC_000003.11:g.42729678C>G , CM000665.1:g.42729678C>G | GRCh37 |
| NC_000003.10:g.42704682C>G | NCBI36 |
| NG_033035.1:g.7668C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287777.5:c.1197C>G MANE Select | ENSP00000287777.4:p.Pro399= | |
| ENST00000287777.4:c.1197C>G | ENSP00000287777.4:p.Pro399= | |
| NM_152393.3:c.1197C>G | NP_689606.2:p.Pro399= | |
| XM_005264866.2:c.1197C>G | XP_005264923.1:p.Pro399= | |
| NM_152393.4:c.1197C>G MANE Select | NP_689606.2:p.Pro399= |