Linked Data
dbSNP Id:
rs35713889
ExAC:
3:49162583 C / G
gnomAD v2:
3-49162583-C-G
gnomAD v4:
3-49125150-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49125150C>G , CM000665.2:g.49125150C>G | GRCh38 |
| NC_000003.11:g.49162583C>G , CM000665.1:g.49162583C>G | GRCh37 |
| NC_000003.10:g.49137587C>G | NCBI36 |
| NG_008094.1:g.13017G>C | |
| NG_054716.1:g.789G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305544.9:c.2740G>C MANE Select | ENSP00000307156.4:p.Gly914Arg | |
| ENST00000305544.8:c.2740G>C | ENSP00000307156.4:p.Gly914Arg | |
| ENST00000418109.5:c.2740G>C | ENSP00000388325.1:p.Gly914Arg | |
| ENST00000462930.5:n.147G>C | ||
| ENST00000464891.5:n.473G>C | ||
| ENST00000483057.1:n.340G>C | ||
| ENST00000486298.5:n.445G>C | ||
| ENST00000542580.1:n.55G>C | ||
| NM_002292.3:c.2740G>C | NP_002283.3:p.Gly914Arg | |
| XM_005265127.3:c.2740G>C | XP_005265184.1:p.Gly914Arg | |
| XM_005265127.4:c.2740G>C | XP_005265184.1:p.Gly914Arg | |
| NM_002292.4:c.2740G>C MANE Select | NP_002283.3:p.Gly914Arg |