Linked Data
dbSNP Id:
rs1269536829
gnomAD v2:
3-15643200-T-C
gnomAD v3:
3-15601693-T-C
gnomAD v4:
3-15601693-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601693T>C , CM000665.2:g.15601693T>C | GRCh38 |
| NC_000003.11:g.15643200T>C , CM000665.1:g.15643200T>C | GRCh37 |
| NC_000003.10:g.15618204T>C | NCBI36 |
| NG_008019.1:g.4946T>C | |
| NG_008019.2:g.5342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427382.2:c.-17+46T>C (BTD) | ENSP00000397113.2:n.-17+46T>C | |
| ENST00000449107.7:c.-94T>C (BTD) | ENSP00000388212.2:n.-94T>C | |
| ENST00000321169.9:c.-230A>G (HACL1) | ENSP00000323811.5:n.-230A>G | |
| ENST00000417015.1:c.*94T>C (BTD) | ENSP00000403775.1:n.*94T>C | |
| ENST00000427382.1:c.-17+46T>C (BTD) | ENSP00000397113.1:n.-17+46T>C | |
| ENST00000449107.5:c.-28T>C (BTD) | ENSP00000388212.1:n.-28T>C | |
| ENST00000494021.1:n.324T>C (BTD) | ||
| ENST00000628377.2:c.-230A>G (HACL1) | ENSP00000486684.1:n.-230A>G | |
| NM_001281723.1:c.-28T>C (BTD) | NP_001268652.1:n.-28T>C | |
| NM_001284413.1:c.-230A>G (HACL1) | NP_001271342.1:n.-230A>G | |
| NM_001284415.1:c.-230A>G (HACL1) | NP_001271344.1:n.-230A>G | |
| NM_001284416.1:c.-230A>G (HACL1) | NP_001271345.1:n.-230A>G | |
| NM_012260.3:c.-230A>G (HACL1) | NP_036392.2:n.-230A>G | |
| NR_104315.1:n.160A>G (HACL1) | ||
| NM_001281723.2:c.-28T>C (BTD) | NP_001268652.1:n.-28T>C | |
| NM_001281723.3:c.-94T>C (BTD) | NP_001268652.2:n.-94T>C |