Linked Data
ClinVar Variation Id:
208752
dbSNP Id:
rs184770596
ExAC:
2:74166105 C / G
gnomAD v2:
2-74166105-C-G
gnomAD v3:
2-73938978-C-G
gnomAD v4:
2-73938978-C-G
PubMed:
PMID:25131622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73938978C>G , CM000664.2:g.73938978C>G | GRCh38 |
| NC_000002.11:g.74166105C>G , CM000664.1:g.74166105C>G | GRCh37 |
| NC_000002.10:g.74019613C>G | NCBI36 |
| NG_008044.1:g.17153C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264093.9:c.211C>G MANE Select | ENSP00000264093.4:p.Pro71Ala | |
| ENST00000264093.8:c.211C>G | ENSP00000264093.4:p.Pro71Ala | |
| ENST00000348222.3:c.211C>G | ENSP00000306964.3:p.Pro71Ala | |
| ENST00000418996.5:c.143-7741C>G | ENSP00000408209.1:n.143-7741C>G | |
| ENST00000462551.1:n.161-7741C>G | ||
| ENST00000462685.1:n.242+6295C>G | ||
| ENST00000489796.5:n.228C>G | ||
| ENST00000493055.1:n.214C>G | ||
| ENST00000629438.2:c.143-7741C>G | ENSP00000487122.1:n.143-7741C>G | |
| NM_080916.2:c.211C>G | NP_550438.1:p.Pro71Ala | |
| NM_080918.2:c.211C>G | NP_550440.1:p.Pro71Ala | |
| XM_005264173.2:c.-36-7741C>G | XP_005264230.1:n.-36-7741C>G | |
| XM_005264174.1:c.-37+6295C>G | XP_005264231.1:n.-37+6295C>G | |
| XM_011532647.1:c.211C>G | XP_011530949.1:p.Pro71Ala | |
| XM_011532648.1:c.-37+6295C>G | XP_011530950.1:n.-37+6295C>G | |
| XR_244926.2:n.292C>G | ||
| NM_001318859.1:c.211C>G | NP_001305788.1:p.Pro71Ala | |
| NM_001318860.1:c.-36-7741C>G | NP_001305789.1:n.-36-7741C>G | |
| NM_001318861.1:c.-37+6295C>G | NP_001305790.1:n.-37+6295C>G | |
| NM_001318862.1:c.-37+6295C>G | NP_001305791.1:n.-37+6295C>G | |
| NM_001318863.1:c.-36-7741C>G | NP_001305792.1:n.-36-7741C>G | |
| NR_134893.1:n.228-7741C>G | ||
| NR_134894.1:n.228-7741C>G | ||
| NR_134895.1:n.227+11926C>G | ||
| NR_134896.1:n.228-7741C>G | ||
| NR_134897.1:n.313+6295C>G | ||
| NR_134898.1:n.228-7741C>G | ||
| XM_011532647.2:c.211C>G | XP_011530949.1:p.Pro71Ala | |
| XM_024452739.1:c.-81C>G | XP_024308507.1:n.-81C>G | |
| XR_001738656.1:n.295C>G | ||
| XR_244926.3:n.294C>G | ||
| NM_080916.3:c.211C>G MANE Select | NP_550438.1:p.Pro71Ala | |
| NM_001318859.2:c.211C>G | NP_001305788.1:p.Pro71Ala | |
| NM_001318860.2:c.-36-7741C>G | NP_001305789.1:n.-36-7741C>G | |
| NM_001318861.2:c.-37+6295C>G | NP_001305790.1:n.-37+6295C>G | |
| NM_001318862.2:c.-37+6295C>G | NP_001305791.1:n.-37+6295C>G | |
| NM_001318863.2:c.-36-7741C>G | NP_001305792.1:n.-36-7741C>G | |
| NM_080918.3:c.211C>G | NP_550440.1:p.Pro71Ala | |
| NR_134893.2:n.174-7741C>G | ||
| NR_134894.2:n.174-7741C>G | ||
| NR_134895.2:n.173+11926C>G | ||
| NR_134896.2:n.174-7741C>G | ||
| NR_134897.2:n.259+6295C>G | ||
| NR_134898.2:n.174-7741C>G |