Linked Data
ClinVar Variation Id:
295998
dbSNP Id:
rs571670427
gnomAD v2:
1-227083383-C-T
gnomAD v3:
1-226895682-C-T
gnomAD v4:
1-226895682-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226895682C>T , CM000663.2:g.226895682C>T | GRCh38 |
| NC_000001.10:g.227083383C>T , CM000663.1:g.227083383C>T | GRCh37 |
| NC_000001.9:g.225150006C>T | NCBI36 |
| NG_007381.1:g.30111C>T | |
| NG_012825.2:g.3147C>T | |
| NG_007381.2:g.30499C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366779.6:c.*103C>T | ENSP00000355741.2:n.*103C>T | |
| ENST00000366782.6:c.*103C>T | ENSP00000355746.2:n.*103C>T | |
| ENST00000366783.8:c.*103C>T MANE Select | ENSP00000355747.3:n.*103C>T | |
| ENST00000471728.2:n.2088C>T | ||
| ENST00000524196.6:c.*103C>T | ENSP00000429036.2:n.*103C>T | |
| ENST00000626989.3:c.*103C>T | ENSP00000486498.2:n.*103C>T | |
| ENST00000676467.1:c.*1277C>T | ENSP00000504294.1:n.*1277C>T | |
| ENST00000676747.1:c.1188+1557C>T | ENSP00000503244.1:n.1188+1557C>T | |
| ENST00000676884.1:c.*103C>T | ENSP00000503200.1:n.*103C>T | |
| ENST00000676888.1:c.*791C>T | ENSP00000504483.1:n.*791C>T | |
| ENST00000676907.1:c.*1029C>T | ENSP00000504410.1:n.*1029C>T | |
| ENST00000676945.1:c.1191+1557C>T | ENSP00000504433.1:n.1191+1557C>T | |
| ENST00000677065.1:n.2011C>T | ||
| ENST00000677414.1:c.*103C>T | ENSP00000503116.1:n.*103C>T | |
| ENST00000677529.1:n.3180C>T | ||
| ENST00000677596.1:c.*1672C>T | ENSP00000503618.1:n.*1672C>T | |
| ENST00000677599.1:c.1191+1557C>T | ENSP00000503673.1:n.1191+1557C>T | |
| ENST00000677748.1:n.3705C>T | ||
| ENST00000677880.1:c.*103C>T | ENSP00000503121.1:n.*103C>T | |
| ENST00000678021.1:c.*1073C>T | ENSP00000504674.1:n.*1073C>T | |
| ENST00000678233.1:c.*8+95C>T | ENSP00000504728.1:n.*8+95C>T | |
| ENST00000678320.1:c.*103C>T | ENSP00000503680.1:n.*103C>T | |
| ENST00000678655.1:c.1092+1557C>T | ENSP00000504230.1:n.1092+1557C>T | |
| ENST00000678706.1:c.*827C>T | ENSP00000503659.1:n.*827C>T | |
| ENST00000678776.1:c.*1587C>T | ENSP00000504624.1:n.*1587C>T | |
| ENST00000678784.1:c.1073-2038C>T | ENSP00000504652.1:n.1073-2038C>T | |
| ENST00000678820.1:c.1089+1557C>T | ENSP00000504138.1:n.1089+1557C>T | |
| ENST00000678835.1:c.*757-2038C>T | ENSP00000504343.1:n.*757-2038C>T | |
| ENST00000679088.1:c.*103C>T | ENSP00000504727.1:n.*103C>T | |
| ENST00000679098.1:c.*8+95C>T | ENSP00000504303.1:n.*8+95C>T | |
| ENST00000366782.5:c.*103C>T | ENSP00000355746.1:n.*103C>T | |
| ENST00000366783.7:c.*103C>T | ENSP00000355747.3:n.*103C>T | |
| ENST00000422240.6:c.*103C>T | ENSP00000403737.2:n.*103C>T | |
| ENST00000472139.2:c.*103C>T | ENSP00000427806.1:n.*103C>T | |
| ENST00000626989.2:c.1549C>T | ENSP00000486498.1:n.1549C>T | |
| NM_000447.2:c.*103C>T | NP_000438.2:n.*103C>T | |
| NM_012486.2:c.*103C>T | NP_036618.2:n.*103C>T | |
| XM_005273199.2:c.*103C>T | XP_005273256.1:n.*103C>T | |
| XM_011544236.1:c.*103C>T | XP_011542538.1:n.*103C>T | |
| XM_005273199.4:c.*103C>T | XP_005273256.1:n.*103C>T | |
| XM_017001835.1:c.*103C>T | XP_016857324.1:n.*103C>T | |
| XM_017001836.1:c.*103C>T | XP_016857325.1:n.*103C>T | |
| XR_001737316.2:n.1478-2038C>T | ||
| XR_001737317.2:n.1478-2038C>T | ||
| XR_001737318.2:n.2165C>T | ||
| XR_001737319.1:n.2508C>T | ||
| XR_001737320.1:n.2505C>T | ||
| XR_001737321.1:n.2000C>T | ||
| XR_949149.2:n.2162C>T | ||
| XR_949150.3:n.2381C>T | ||
| NM_000447.3:c.*103C>T MANE Select | NP_000438.2:n.*103C>T | |
| NM_012486.3:c.*103C>T | NP_036618.2:n.*103C>T |