Linked Data
dbSNP Id:
rs575184764
ExAC:
1:94883994 C / G
gnomAD v2:
1-94883994-C-G
gnomAD v3:
1-94418438-C-G
gnomAD v4:
1-94418438-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418438C>G , CM000663.2:g.94418438C>G | GRCh38 |
| NC_000001.10:g.94883994C>G , CM000663.1:g.94883994C>G | GRCh37 |
| NC_000001.9:g.94656582C>G | NCBI36 |
| NG_008865.1:g.5062C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-41C>G MANE Select | ENSP00000359233.4:n.-41C>G | |
| NM_001122674.1:c.-41C>G | NP_001116146.1:n.-41C>G | |
| NM_002858.3:c.-41C>G | NP_002849.1:n.-41C>G | |
| XM_006710802.2:c.-41C>G | XP_006710865.2:n.-41C>G | |
| NM_002858.4:c.-41C>G MANE Select | NP_002849.1:n.-41C>G | |
| NM_001122674.2:c.-41C>G | NP_001116146.1:n.-41C>G |