Linked Data
ClinVar Variation Id:
310411
ClinVar RCV Id:
RCV000261119
dbSNP Id:
rs779168691
ExAC:
12:7342531 T / C
gnomAD v2:
12-7342531-T-C
gnomAD v3:
12-7189935-T-C
gnomAD v4:
12-7189935-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7189935T>C , CM000674.2:g.7189935T>C | GRCh38 |
| NC_000012.11:g.7342531T>C , CM000674.1:g.7342531T>C | GRCh37 |
| NC_000012.10:g.7233798T>C | NCBI36 |
| NG_008448.1:g.5773T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675855.1:c.-17+185T>C MANE Select | ENSP00000502374.1:n.-17+185T>C | |
| ENST00000266563.9:c.-17+185T>C | ENSP00000266563.5:n.-17+185T>C | |
| ENST00000412720.6:c.2T>C | ENSP00000391601.2:p.Met1Thr | |
| ENST00000420616.6:c.-298T>C | ENSP00000410159.2:n.-298T>C | |
| ENST00000434354.6:c.-17+185T>C | ENSP00000407401.2:n.-17+185T>C | |
| ENST00000455147.6:c.-211-87T>C | ENSP00000400647.2:n.-211-87T>C | |
| ENST00000536883.5:c.-102-953T>C | ENSP00000441553.1:n.-102-953T>C | |
| ENST00000540398.5:c.-17+404T>C | ENSP00000438494.1:n.-17+404T>C | |
| ENST00000542539.5:c.-16-427T>C | ENSP00000439025.1:n.-16-427T>C | |
| ENST00000543974.5:c.-143+275T>C | ENSP00000438772.1:n.-143+275T>C | |
| ENST00000544456.5:c.-211-87T>C | ENSP00000440833.1:n.-211-87T>C | |
| ENST00000545220.1:n.65+185T>C | ||
| ENST00000545574.5:c.-17+185T>C | ENSP00000443500.1:n.-17+185T>C | |
| NM_001131023.1:c.-17+185T>C | NP_001124495.1:n.-17+185T>C | |
| NM_001131024.1:c.-17+185T>C | NP_001124496.1:n.-17+185T>C | |
| NM_001131025.1:c.-298T>C | NP_001124497.1:n.-298T>C | |
| NM_001131026.1:c.-211-87T>C | NP_001124498.1:n.-211-87T>C | |
| NM_001300789.1:c.2T>C | NP_001287718.1:p.Met1Thr | |
| XM_005253455.1:c.2T>C | XP_005253512.1:p.Met1Thr | |
| XM_011520793.1:c.2T>C | XP_011519095.1:p.Met1Thr | |
| XM_011520794.1:c.2T>C | XP_011519096.1:p.Met1Thr | |
| XM_011520795.1:c.-298T>C | XP_011519097.1:n.-298T>C | |
| XM_011520796.1:c.-211-87T>C | XP_011519098.1:n.-211-87T>C | |
| XM_011520797.1:c.-17+185T>C | XP_011519099.1:n.-17+185T>C | |
| XM_011520798.1:c.-211-87T>C | XP_011519100.1:n.-211-87T>C | |
| XM_011520799.1:c.-17+404T>C | XP_011519101.1:n.-17+404T>C | |
| XM_011520800.1:c.-90+185T>C | XP_011519102.1:n.-90+185T>C | |
| XM_011520801.1:c.2T>C | XP_011519103.1:p.Met1Thr | |
| NM_001351124.1:c.-16-427T>C | NP_001338053.1:n.-16-427T>C | |
| NM_001351126.1:c.-17+404T>C | NP_001338055.1:n.-17+404T>C | |
| NM_001351127.1:c.-211-87T>C | NP_001338056.1:n.-211-87T>C | |
| NM_001351128.1:c.-90+185T>C | NP_001338057.1:n.-90+185T>C | |
| NM_001351130.1:c.-298T>C | NP_001338059.1:n.-298T>C | |
| NM_001351131.1:c.-17+404T>C | NP_001338060.1:n.-17+404T>C | |
| NM_001351132.1:c.-17+185T>C | NP_001338061.1:n.-17+185T>C | |
| NM_001351133.1:c.-211-87T>C | NP_001338062.1:n.-211-87T>C | |
| NM_001351134.1:c.-90+185T>C | NP_001338063.1:n.-90+185T>C | |
| NM_001351135.1:c.2T>C | NP_001338064.1:p.Met1Thr | |
| NM_001351136.1:c.-17+185T>C | NP_001338065.1:n.-17+185T>C | |
| NM_001351137.1:c.2T>C | NP_001338066.1:p.Met1Thr | |
| NM_001351138.1:c.-17+185T>C | NP_001338067.1:n.-17+185T>C | |
| NM_001351139.1:c.-17+185T>C | NP_001338068.1:n.-17+185T>C | |
| NM_001351140.1:c.-211-87T>C | NP_001338069.1:n.-211-87T>C | |
| XM_011520793.2:c.2T>C | XP_011519095.1:p.Met1Thr | |
| XM_017019744.1:c.2T>C | XP_016875233.1:p.Met1Thr | |
| XM_017019745.1:c.2T>C | XP_016875234.1:p.Met1Thr | |
| XM_017019746.1:c.2T>C | XP_016875235.1:p.Met1Thr | |
| XM_017019747.1:c.2T>C | XP_016875236.1:p.Met1Thr | |
| XM_017019748.1:c.-17+404T>C | XP_016875237.1:n.-17+404T>C | |
| XM_017019749.1:c.-298T>C | XP_016875238.1:n.-298T>C | |
| XM_017019750.1:c.-17+185T>C | XP_016875239.1:n.-17+185T>C | |
| XR_001748833.1:n.44T>C | ||
| NM_000319.5:c.-17+185T>C | NP_000310.2:n.-17+185T>C | |
| NM_001131023.2:c.-17+185T>C | NP_001124495.1:n.-17+185T>C | |
| NM_001131024.2:c.-17+185T>C | NP_001124496.1:n.-17+185T>C | |
| NM_001131025.2:c.-298T>C | NP_001124497.1:n.-298T>C | |
| NM_001131026.2:c.-211-87T>C | NP_001124498.1:n.-211-87T>C | |
| NM_001300789.3:c.-62T>C | NP_001287718.2:n.-62T>C | |
| NM_001351124.3:c.-16-427T>C | NP_001338053.1:n.-16-427T>C | |
| NM_001351126.2:c.-17+404T>C | NP_001338055.1:n.-17+404T>C | |
| NM_001351127.2:c.-211-87T>C | NP_001338056.1:n.-211-87T>C | |
| NM_001351128.2:c.-90+185T>C | NP_001338057.1:n.-90+185T>C | |
| NM_001351130.3:c.-298T>C | NP_001338059.1:n.-298T>C | |
| NM_001351131.2:c.-17+404T>C | NP_001338060.1:n.-17+404T>C | |
| NM_001351132.2:c.-17+185T>C MANE Select | NP_001338061.1:n.-17+185T>C | |
| NM_001351133.2:c.-211-87T>C | NP_001338062.1:n.-211-87T>C | |
| NM_001351134.2:c.-90+185T>C | NP_001338063.1:n.-90+185T>C | |
| NM_001351135.3:c.-62T>C | NP_001338064.2:n.-62T>C | |
| NM_001351136.2:c.-17+185T>C | NP_001338065.1:n.-17+185T>C | |
| NM_001351137.3:c.-62T>C | NP_001338066.2:n.-62T>C | |
| NM_001351138.2:c.-17+185T>C | NP_001338067.1:n.-17+185T>C | |
| NM_001351139.2:c.-17+185T>C | NP_001338068.1:n.-17+185T>C | |
| NM_001351140.2:c.-211-87T>C | NP_001338069.1:n.-211-87T>C | |
| NM_001374645.1:c.-15+185T>C | NP_001361574.1:n.-15+185T>C | |
| NM_001374646.1:c.-17+185T>C | NP_001361575.1:n.-17+185T>C | |
| NM_001374647.2:c.-443T>C | NP_001361576.1:n.-443T>C | |
| NM_001374648.2:c.-443T>C | NP_001361577.1:n.-443T>C | |
| NM_001374649.2:c.-443T>C | NP_001361578.1:n.-443T>C |