Linked Data
ClinVar Variation Id:
371272
ClinVar RCV Id:
RCV000411121
dbSNP Id:
rs143058480
gnomAD v4:
3-15601893-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601893A>T , CM000665.2:g.15601893A>T | GRCh38 |
| NC_000003.11:g.15643400A>T , CM000665.1:g.15643400A>T | GRCh37 |
| NC_000003.10:g.15618404A>T | NCBI36 |
| NG_008019.1:g.5146A>T | |
| NG_008019.2:g.5542A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671928.2:c.-18A>T | ENSP00000500069.2:n.-18A>T | |
| ENST00000672892.2:c.-18A>T | ENSP00000499944.2:n.-18A>T | |
| ENST00000303498.10:c.-294A>T | ENSP00000306477.6:n.-294A>T | |
| ENST00000417015.3:c.-18A>T | ENSP00000403775.3:n.-18A>T | |
| ENST00000427382.2:c.-17+246A>T | ENSP00000397113.2:n.-17+246A>T | |
| ENST00000437172.6:c.-206A>T | ENSP00000400995.2:n.-206A>T | |
| ENST00000449107.7:c.-17+123A>T | ENSP00000388212.2:n.-17+123A>T | |
| ENST00000467027.6:n.130A>T | ||
| ENST00000643237.3:c.-18A>T MANE Select | ENSP00000495254.2:n.-18A>T | |
| ENST00000646371.1:c.-293+123A>T | ENSP00000495866.1:n.-293+123A>T | |
| ENST00000672065.1:c.43A>T | ENSP00000500403.1:p.Arg15Ter | |
| ENST00000672112.1:c.-140A>T | ENSP00000500193.1:n.-140A>T | |
| ENST00000672141.1:c.-18A>T | ENSP00000500210.1:n.-18A>T | |
| ENST00000672336.1:c.-710A>T | ENSP00000500267.1:n.-710A>T | |
| ENST00000672427.1:c.-18A>T | ENSP00000500131.1:n.-18A>T | |
| ENST00000672760.1:c.-18A>T | ENSP00000500530.1:n.-18A>T | |
| ENST00000672968.1:n.20+123A>T | ||
| ENST00000673467.1:c.-18A>T | ENSP00000500288.1:n.-18A>T | |
| ENST00000673620.1:c.-17+123A>T | ENSP00000500325.1:n.-17+123A>T | |
| ENST00000303498.9:c.43A>T | ENSP00000306477.5:p.Arg15Ter | |
| ENST00000417015.1:c.*294A>T | ENSP00000403775.1:n.*294A>T | |
| ENST00000427382.1:c.-17+246A>T | ENSP00000397113.1:n.-17+246A>T | |
| ENST00000437172.5:c.-140A>T | ENSP00000400995.1:n.-140A>T | |
| ENST00000449107.5:c.50+123A>T | ENSP00000388212.1:n.50+123A>T | |
| ENST00000467027.5:n.93A>T | ||
| ENST00000471964.5:n.123A>T | ||
| ENST00000480711.1:n.146A>T | ||
| ENST00000494021.1:n.401+123A>T | ||
| NM_000060.3:c.43A>T | NP_000051.1:p.Arg15Ter | |
| NM_001281723.1:c.50+123A>T | NP_001268652.1:n.50+123A>T | |
| NM_001281724.1:c.-140A>T | NP_001268653.1:n.-140A>T | |
| NM_001281726.1:c.43A>T | NP_001268655.1:p.Arg15Ter | |
| XM_006713314.2:c.-294A>T | XP_006713377.1:n.-294A>T | |
| XM_011534041.1:c.-192A>T | XP_011532343.1:n.-192A>T | |
| NM_000060.4:c.43A>T | NP_000051.1:p.Arg15Ter | |
| NM_001281723.2:c.50+123A>T | NP_001268652.1:n.50+123A>T | |
| NM_001281724.2:c.-140A>T | NP_001268653.1:n.-140A>T | |
| NM_001323582.1:c.-294A>T | NP_001310511.1:n.-294A>T | |
| XM_011534041.2:c.-192A>T | XP_011532343.1:n.-192A>T | |
| XM_017007088.1:c.-468A>T | XP_016862577.1:n.-468A>T | |
| NM_001281723.3:c.-17+123A>T | NP_001268652.2:n.-17+123A>T | |
| NM_001281724.3:c.-206A>T | NP_001268653.2:n.-206A>T | |
| NM_001370658.1:c.-18A>T MANE Select | NP_001357587.1:n.-18A>T | |
| NM_001370752.1:c.-18A>T | NP_001357681.1:n.-18A>T | |
| NM_001370753.1:c.-18A>T | NP_001357682.1:n.-18A>T | |
| NM_001281726.2:c.-18A>T | NP_001268655.2:n.-18A>T |