Linked Data
dbSNP Id:
rs765652334
ExAC:
3:15643316 C / G
gnomAD v2:
3-15643316-C-G
gnomAD v3:
3-15601809-C-G
gnomAD v4:
3-15601809-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601809C>G , CM000665.2:g.15601809C>G | GRCh38 |
| NC_000003.11:g.15643316C>G , CM000665.1:g.15643316C>G | GRCh37 |
| NC_000003.10:g.15618320C>G | NCBI36 |
| NG_008019.1:g.5062C>G | |
| NG_008019.2:g.5458C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000671928.2:c.-102C>G (BTD) | ENSP00000500069.2:n.-102C>G | |
| ENST00000672892.2:c.-102C>G (BTD) | ENSP00000499944.2:n.-102C>G | |
| ENST00000303498.10:c.-378C>G (BTD) | ENSP00000306477.6:n.-378C>G | |
| ENST00000417015.3:c.-102C>G (BTD) | ENSP00000403775.3:n.-102C>G | |
| ENST00000427382.2:c.-17+162C>G (BTD) | ENSP00000397113.2:n.-17+162C>G | |
| ENST00000437172.6:c.-290C>G (BTD) | ENSP00000400995.2:n.-290C>G | |
| ENST00000449107.7:c.-17+39C>G (BTD) | ENSP00000388212.2:n.-17+39C>G | |
| ENST00000467027.6:n.46C>G (BTD) | ||
| ENST00000643237.3:c.-102C>G (BTD) MANE Select | ENSP00000495254.2:n.-102C>G | |
| ENST00000646371.1:c.-293+39C>G (BTD) | ENSP00000495866.1:n.-293+39C>G | |
| ENST00000672065.1:c.-42C>G (BTD) | ENSP00000500403.1:n.-42C>G | |
| ENST00000672112.1:c.-224C>G (BTD) | ENSP00000500193.1:n.-224C>G | |
| ENST00000672141.1:c.-102C>G (BTD) | ENSP00000500210.1:n.-102C>G | |
| ENST00000672336.1:c.-794C>G (BTD) | ENSP00000500267.1:n.-794C>G | |
| ENST00000672427.1:c.-102C>G (BTD) | ENSP00000500131.1:n.-102C>G | |
| ENST00000672760.1:c.-102C>G (BTD) | ENSP00000500530.1:n.-102C>G | |
| ENST00000672968.1:n.20+39C>G (BTD) | ||
| ENST00000673467.1:c.-102C>G (BTD) | ENSP00000500288.1:n.-102C>G | |
| ENST00000673620.1:c.-17+39C>G (BTD) | ENSP00000500325.1:n.-17+39C>G | |
| ENST00000303498.9:c.-42C>G (BTD) | ENSP00000306477.5:n.-42C>G | |
| ENST00000321169.9:c.-346G>C (HACL1) | ENSP00000323811.5:n.-346G>C | |
| ENST00000417015.1:c.*210C>G (BTD) | ENSP00000403775.1:n.*210C>G | |
| ENST00000427382.1:c.-17+162C>G (BTD) | ENSP00000397113.1:n.-17+162C>G | |
| ENST00000437172.5:c.-224C>G (BTD) | ENSP00000400995.1:n.-224C>G | |
| ENST00000449107.5:c.50+39C>G (BTD) | ENSP00000388212.1:n.50+39C>G | |
| ENST00000467027.5:n.9C>G (BTD) | ||
| ENST00000471964.5:n.39C>G (BTD) | ||
| ENST00000480711.1:n.62C>G (BTD) | ||
| ENST00000494021.1:n.401+39C>G (BTD) | ||
| ENST00000628377.2:c.-346G>C (HACL1) | ENSP00000486684.1:n.-346G>C | |
| NM_000060.3:c.-42C>G (BTD) | NP_000051.1:n.-42C>G | |
| NM_001281723.1:c.50+39C>G (BTD) | NP_001268652.1:n.50+39C>G | |
| NM_001281724.1:c.-224C>G (BTD) | NP_001268653.1:n.-224C>G | |
| NM_001281726.1:c.-42C>G (BTD) | NP_001268655.1:n.-42C>G | |
| NM_001284413.1:c.-346G>C (HACL1) | NP_001271342.1:n.-346G>C | |
| NM_001284415.1:c.-346G>C (HACL1) | NP_001271344.1:n.-346G>C | |
| NM_001284416.1:c.-346G>C (HACL1) | NP_001271345.1:n.-346G>C | |
| NM_012260.3:c.-346G>C (HACL1) | NP_036392.2:n.-346G>C | |
| NR_104315.1:n.44G>C (HACL1) | ||
| XM_006713314.2:c.-378C>G (BTD) | XP_006713377.1:n.-378C>G | |
| XM_011534041.1:c.-276C>G (BTD) | XP_011532343.1:n.-276C>G | |
| NM_000060.4:c.-42C>G (BTD) | NP_000051.1:n.-42C>G | |
| NM_001281723.2:c.50+39C>G (BTD) | NP_001268652.1:n.50+39C>G | |
| NM_001281724.2:c.-224C>G (BTD) | NP_001268653.1:n.-224C>G | |
| NM_001323582.1:c.-378C>G (BTD) | NP_001310511.1:n.-378C>G | |
| XM_011534041.2:c.-276C>G (BTD) | XP_011532343.1:n.-276C>G | |
| XM_017007088.1:c.-552C>G (BTD) | XP_016862577.1:n.-552C>G | |
| NM_001281723.3:c.-17+39C>G (BTD) | NP_001268652.2:n.-17+39C>G | |
| NM_001281724.3:c.-290C>G (BTD) | NP_001268653.2:n.-290C>G | |
| NM_001370658.1:c.-102C>G (BTD) MANE Select | NP_001357587.1:n.-102C>G | |
| NM_001370752.1:c.-102C>G (BTD) | NP_001357681.1:n.-102C>G | |
| NM_001370753.1:c.-102C>G (BTD) | NP_001357682.1:n.-102C>G | |
| NM_001281726.2:c.-102C>G (BTD) | NP_001268655.2:n.-102C>G |