Linked Data
dbSNP Id:
rs758937936
ExAC:
3:15643126 G / A
gnomAD v2:
3-15643126-G-A
gnomAD v3:
3-15601619-G-A
gnomAD v4:
3-15601619-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601619G>A , CM000665.2:g.15601619G>A | GRCh38 |
| NC_000003.11:g.15643126G>A , CM000665.1:g.15643126G>A | GRCh37 |
| NC_000003.10:g.15618130G>A | NCBI36 |
| NG_008019.1:g.4872G>A | |
| NG_008019.2:g.5268G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427382.2:c.-45G>A (BTD) | ENSP00000397113.2:n.-45G>A | |
| ENST00000449107.7:c.-168G>A (BTD) | ENSP00000388212.2:n.-168G>A | |
| ENST00000321169.9:c.-156C>T (HACL1) | ENSP00000323811.5:n.-156C>T | |
| ENST00000417015.1:c.*20G>A (BTD) | ENSP00000403775.1:n.*20G>A | |
| ENST00000427382.1:c.-45G>A (BTD) | ENSP00000397113.1:n.-45G>A | |
| ENST00000494021.1:n.250G>A (BTD) | ||
| ENST00000628377.2:c.-156C>T (HACL1) | ENSP00000486684.1:n.-156C>T | |
| NM_001281723.1:c.-102G>A (BTD) | NP_001268652.1:n.-102G>A | |
| NM_001284413.1:c.-156C>T (HACL1) | NP_001271342.1:n.-156C>T | |
| NM_001284415.1:c.-156C>T (HACL1) | NP_001271344.1:n.-156C>T | |
| NM_001284416.1:c.-156C>T (HACL1) | NP_001271345.1:n.-156C>T | |
| NM_012260.3:c.-156C>T (HACL1) | NP_036392.2:n.-156C>T | |
| NR_104315.1:n.234C>T (HACL1) | ||
| NM_001281723.2:c.-102G>A (BTD) | NP_001268652.1:n.-102G>A | |
| NM_001281723.3:c.-168G>A (BTD) | NP_001268652.2:n.-168G>A |