Linked Data
dbSNP Id:
rs774092766
ExAC:
1:227083332 A / C
gnomAD v2:
1-227083332-A-C
gnomAD v4:
1-226895631-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226895631A>C , CM000663.2:g.226895631A>C | GRCh38 |
| NC_000001.10:g.227083332A>C , CM000663.1:g.227083332A>C | GRCh37 |
| NC_000001.9:g.225149955A>C | NCBI36 |
| NG_007381.1:g.30060A>C | |
| NG_012825.2:g.3096A>C | |
| NG_007381.2:g.30448A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.*52A>C | ENSP00000355741.2:n.*52A>C | |
| ENST00000366782.6:c.*52A>C | ENSP00000355746.2:n.*52A>C | |
| ENST00000366783.8:c.*52A>C MANE Select | ENSP00000355747.3:n.*52A>C | |
| ENST00000471728.2:n.2037A>C | ||
| ENST00000524196.6:c.*52A>C | ENSP00000429036.2:n.*52A>C | |
| ENST00000626989.3:c.*52A>C | ENSP00000486498.2:n.*52A>C | |
| ENST00000676467.1:c.*1226A>C | ENSP00000504294.1:n.*1226A>C | |
| ENST00000676747.1:c.1188+1506A>C | ENSP00000503244.1:n.1188+1506A>C | |
| ENST00000676884.1:c.*52A>C | ENSP00000503200.1:n.*52A>C | |
| ENST00000676888.1:c.*740A>C | ENSP00000504483.1:n.*740A>C | |
| ENST00000676907.1:c.*978A>C | ENSP00000504410.1:n.*978A>C | |
| ENST00000676945.1:c.1191+1506A>C | ENSP00000504433.1:n.1191+1506A>C | |
| ENST00000677065.1:n.1960A>C | ||
| ENST00000677414.1:c.*52A>C | ENSP00000503116.1:n.*52A>C | |
| ENST00000677529.1:n.3129A>C | ||
| ENST00000677596.1:c.*1621A>C | ENSP00000503618.1:n.*1621A>C | |
| ENST00000677599.1:c.1191+1506A>C | ENSP00000503673.1:n.1191+1506A>C | |
| ENST00000677748.1:n.3654A>C | ||
| ENST00000677880.1:c.*52A>C | ENSP00000503121.1:n.*52A>C | |
| ENST00000678021.1:c.*1022A>C | ENSP00000504674.1:n.*1022A>C | |
| ENST00000678233.1:c.*8+44A>C | ENSP00000504728.1:n.*8+44A>C | |
| ENST00000678320.1:c.*52A>C | ENSP00000503680.1:n.*52A>C | |
| ENST00000678655.1:c.1092+1506A>C | ENSP00000504230.1:n.1092+1506A>C | |
| ENST00000678706.1:c.*776A>C | ENSP00000503659.1:n.*776A>C | |
| ENST00000678776.1:c.*1536A>C | ENSP00000504624.1:n.*1536A>C | |
| ENST00000678784.1:c.1073-2089A>C | ENSP00000504652.1:n.1073-2089A>C | |
| ENST00000678820.1:c.1089+1506A>C | ENSP00000504138.1:n.1089+1506A>C | |
| ENST00000678835.1:c.*757-2089A>C | ENSP00000504343.1:n.*757-2089A>C | |
| ENST00000679088.1:c.*52A>C | ENSP00000504727.1:n.*52A>C | |
| ENST00000679098.1:c.*8+44A>C | ENSP00000504303.1:n.*8+44A>C | |
| ENST00000366782.5:c.*52A>C | ENSP00000355746.1:n.*52A>C | |
| ENST00000366783.7:c.*52A>C | ENSP00000355747.3:n.*52A>C | |
| ENST00000422240.6:c.*52A>C | ENSP00000403737.2:n.*52A>C | |
| ENST00000472139.2:c.*52A>C | ENSP00000427806.1:n.*52A>C | |
| ENST00000626989.2:c.1498A>C | ENSP00000486498.1:n.1498A>C | |
| NM_000447.2:c.*52A>C | NP_000438.2:n.*52A>C | |
| NM_012486.2:c.*52A>C | NP_036618.2:n.*52A>C | |
| XM_005273199.2:c.*52A>C | XP_005273256.1:n.*52A>C | |
| XM_011544236.1:c.*52A>C | XP_011542538.1:n.*52A>C | |
| XM_005273199.4:c.*52A>C | XP_005273256.1:n.*52A>C | |
| XM_017001835.1:c.*52A>C | XP_016857324.1:n.*52A>C | |
| XM_017001836.1:c.*52A>C | XP_016857325.1:n.*52A>C | |
| XR_001737316.2:n.1478-2089A>C | ||
| XR_001737317.2:n.1478-2089A>C | ||
| XR_001737318.2:n.2114A>C | ||
| XR_001737319.1:n.2457A>C | ||
| XR_001737320.1:n.2454A>C | ||
| XR_001737321.1:n.1949A>C | ||
| XR_949149.2:n.2111A>C | ||
| XR_949150.3:n.2330A>C | ||
| NM_000447.3:c.*52A>C MANE Select | NP_000438.2:n.*52A>C | |
| NM_012486.3:c.*52A>C | NP_036618.2:n.*52A>C |