Linked Data
dbSNP Id:
rs945018469
gnomAD v2:
19-1104077-C-G
gnomAD v3:
19-1104078-C-G
gnomAD v4:
19-1104078-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104078C>G , CM000681.2:g.1104078C>G | GRCh38 |
| NC_000019.9:g.1104077C>G , CM000681.1:g.1104077C>G | GRCh37 |
| NC_000019.8:g.1055077C>G | NCBI36 |
| NG_050621.1:g.5153C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593032.6:c.-47C>G | ENSP00000465828.4:n.-47C>G | |
| ENST00000706713.1:c.35C>G | ENSP00000516510.1:p.Pro12Arg | |
| ENST00000706714.1:c.-47C>G | ENSP00000516511.1:n.-47C>G | |
| ENST00000354171.13:c.35C>G MANE Select | ENSP00000346103.7:p.Pro12Arg | |
| ENST00000589115.6:c.35C>G | ENSP00000466872.3:p.Pro12Arg | |
| ENST00000354171.12:c.35C>G | ENSP00000346103.7:p.Pro12Arg | |
| ENST00000588919.5:c.-47C>G | ENSP00000464989.3:n.-47C>G | |
| ENST00000589115.5:c.35C>G | ENSP00000466872.2:p.Pro12Arg | |
| ENST00000593032.5:c.-47C>G | ENSP00000465828.3:n.-47C>G | |
| ENST00000611653.4:c.-47C>G | ENSP00000483655.1:n.-47C>G | |
| ENST00000616066.4:c.35C>G | ENSP00000485000.1:p.Pro12Arg | |
| NM_001039847.2:c.35C>G | NP_001034936.1:p.Pro12Arg | |
| NM_002085.4:c.35C>G | NP_002076.2:p.Pro12Arg | |
| NM_001039847.3:c.35C>G | NP_001034936.1:p.Pro12Arg | |
| NM_001367832.1:c.-47C>G | NP_001354761.1:n.-47C>G | |
| NM_002085.5:c.35C>G MANE Select | NP_002076.2:p.Pro12Arg |