Linked Data
ClinVar Variation Id:
343901
dbSNP Id:
rs774964227
ExAC:
3:15643270 C / T
gnomAD v2:
3-15643270-C-T
gnomAD v3:
3-15601763-C-T
gnomAD v4:
3-15601763-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601763C>T , CM000665.2:g.15601763C>T | GRCh38 |
| NC_000003.11:g.15643270C>T , CM000665.1:g.15643270C>T | GRCh37 |
| NC_000003.10:g.15618274C>T | NCBI36 |
| NG_008019.1:g.5016C>T | |
| NG_008019.2:g.5412C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671928.2:c.-148C>T (BTD) | ENSP00000500069.2:n.-148C>T | |
| ENST00000672892.2:c.-148C>T (BTD) | ENSP00000499944.2:n.-148C>T | |
| ENST00000303498.10:c.-424C>T (BTD) | ENSP00000306477.6:n.-424C>T | |
| ENST00000417015.3:c.-148C>T (BTD) | ENSP00000403775.3:n.-148C>T | |
| ENST00000427382.2:c.-17+116C>T (BTD) | ENSP00000397113.2:n.-17+116C>T | |
| ENST00000449107.7:c.-24C>T (BTD) | ENSP00000388212.2:n.-24C>T | |
| ENST00000643237.3:c.-148C>T (BTD) MANE Select | ENSP00000495254.2:n.-148C>T | |
| ENST00000646371.1:c.-300C>T (BTD) | ENSP00000495866.1:n.-300C>T | |
| ENST00000672065.1:c.-88C>T (BTD) | ENSP00000500403.1:n.-88C>T | |
| ENST00000672112.1:c.-270C>T (BTD) | ENSP00000500193.1:n.-270C>T | |
| ENST00000672141.1:c.-148C>T (BTD) | ENSP00000500210.1:n.-148C>T | |
| ENST00000672427.1:c.-148C>T (BTD) | ENSP00000500131.1:n.-148C>T | |
| ENST00000672968.1:n.13C>T (BTD) | ||
| ENST00000673620.1:c.-24C>T (BTD) | ENSP00000500325.1:n.-24C>T | |
| ENST00000303498.9:c.-88C>T (BTD) | ENSP00000306477.5:n.-88C>T | |
| ENST00000321169.9:c.-300G>A (HACL1) | ENSP00000323811.5:n.-300G>A | |
| ENST00000417015.1:c.*164C>T (BTD) | ENSP00000403775.1:n.*164C>T | |
| ENST00000427382.1:c.-17+116C>T (BTD) | ENSP00000397113.1:n.-17+116C>T | |
| ENST00000449107.5:c.43C>T (BTD) | ENSP00000388212.1:p.Gln15Ter | |
| ENST00000480711.1:n.16C>T (BTD) | ||
| ENST00000494021.1:n.394C>T (BTD) | ||
| ENST00000628377.2:c.-300G>A (HACL1) | ENSP00000486684.1:n.-300G>A | |
| NM_000060.3:c.-88C>T (BTD) | NP_000051.1:n.-88C>T | |
| NM_001281723.1:c.43C>T (BTD) | NP_001268652.1:p.Gln15Ter | |
| NM_001281724.1:c.-270C>T (BTD) | NP_001268653.1:n.-270C>T | |
| NM_001281726.1:c.-88C>T (BTD) | NP_001268655.1:n.-88C>T | |
| NM_001284413.1:c.-300G>A (HACL1) | NP_001271342.1:n.-300G>A | |
| NM_001284415.1:c.-300G>A (HACL1) | NP_001271344.1:n.-300G>A | |
| NM_001284416.1:c.-300G>A (HACL1) | NP_001271345.1:n.-300G>A | |
| NM_012260.3:c.-300G>A (HACL1) | NP_036392.2:n.-300G>A | |
| NR_104315.1:n.90G>A (HACL1) | ||
| NM_000060.4:c.-88C>T (BTD) | NP_000051.1:n.-88C>T | |
| NM_001281723.2:c.43C>T (BTD) | NP_001268652.1:p.Gln15Ter | |
| NM_001281724.2:c.-270C>T (BTD) | NP_001268653.1:n.-270C>T | |
| NM_001323582.1:c.-424C>T (BTD) | NP_001310511.1:n.-424C>T | |
| NM_001281723.3:c.-24C>T (BTD) | NP_001268652.2:n.-24C>T | |
| NM_001281724.3:c.-336C>T (BTD) | NP_001268653.2:n.-336C>T | |
| NM_001370658.1:c.-148C>T (BTD) MANE Select | NP_001357587.1:n.-148C>T | |
| NM_001370752.1:c.-148C>T (BTD) | NP_001357681.1:n.-148C>T | |
| NM_001370753.1:c.-148C>T (BTD) | NP_001357682.1:n.-148C>T | |
| NM_001281726.2:c.-148C>T (BTD) | NP_001268655.2:n.-148C>T |