gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.7361959C>T , CM000665.2:g.7361959C>T | GRCh38 |
| NC_000003.11:g.7403646C>T , CM000665.1:g.7403646C>T | GRCh37 |
| NC_000003.10:g.7378646C>T | NCBI36 |
| NG_029781.1:g.505845C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706912.1:c.515-53064C>T | ENSP00000516621.1:n.515-53064C>T | |
| ENST00000357716.9:c.1034-53064C>T MANE Select | ENSP00000350348.4:n.1034-53064C>T | |
| ENST00000357716.8:c.1034-53064C>T | ENSP00000350348.4:n.1034-53064C>T | |
| ENST00000389335.7:c.1034-53064C>T | ENSP00000373986.3:n.1034-53064C>T | |
| ENST00000389336.8:c.1034-53064C>T | ENSP00000373987.4:n.1034-53064C>T | |
| ENST00000402647.6:c.299-53064C>T | ENSP00000384585.4:n.299-53064C>T | |
| ENST00000440923.7:c.1034-53064C>T | ENSP00000412329.3:n.1034-53064C>T | |
| ENST00000461677.6:n.405-53064C>T | ||
| ENST00000463676.6:n.299-53064C>T | ||
| ENST00000467425.5:c.1034-53064C>T | ENSP00000419835.1:n.1034-53064C>T | |
| ENST00000486284.5:c.1034-53064C>T | ENSP00000417536.1:n.1034-53064C>T | |
| NM_000844.3:c.1034-53064C>T | NP_000835.1:n.1034-53064C>T | |
| NM_181874.2:c.1034-53064C>T | NP_870989.1:n.1034-53064C>T | |
| XR_940422.1:n.1326-53064C>T | ||
| XM_017006272.1:c.536-53064C>T | XP_016861761.1:n.536-53064C>T | |
| XM_017006273.1:c.536-53064C>T | XP_016861762.1:n.536-53064C>T | |
| XM_024453492.1:c.-218-53064C>T | XP_024309260.1:n.-218-53064C>T | |
| XM_024453493.1:c.-218-53064C>T | XP_024309261.1:n.-218-53064C>T | |
| XM_024453494.1:c.-218-53064C>T | XP_024309262.1:n.-218-53064C>T | |
| XM_024453495.1:c.-218-53064C>T | XP_024309263.1:n.-218-53064C>T | |
| XM_024453497.1:c.-218-53064C>T | XP_024309265.1:n.-218-53064C>T | |
| XM_024453498.1:c.-218-53064C>T | XP_024309266.1:n.-218-53064C>T | |
| XR_001740134.2:n.1308-53064C>T | ||
| XR_001740135.2:n.1308-53064C>T | ||
| XR_001740136.2:n.1308-53064C>T | ||
| XR_001740137.2:n.1308-53064C>T | ||
| NM_000844.4:c.1034-53064C>T MANE Select | NP_000835.1:n.1034-53064C>T | |
| NM_181874.3:c.1034-53064C>T | NP_870989.1:n.1034-53064C>T |