Linked Data
ClinVar Variation Id:
380147
dbSNP Id:
rs13941
ExAC:
11:62439569 G / A
gnomAD v2:
11-62439569-G-A
gnomAD v3:
11-62672097-G-A
gnomAD v4:
11-62672097-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62672097G>A , CM000673.2:g.62672097G>A | GRCh38 |
| NC_000011.9:g.62439569G>A , CM000673.1:g.62439569G>A | GRCh37 |
| NC_000011.8:g.62196145G>A | NCBI36 |
| NG_041802.1:g.5444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354588.8:c.-544C>T (LBHD1) MANE Select | ENSP00000346600.3:n.-544C>T | |
| ENST00000377953.4:c.265G>A (UQCC3) MANE Select | ENSP00000367189.3:p.Gly89Ser | |
| ENST00000377953.3:c.265G>A (UQCC3) | ENSP00000367189.3:p.Gly89Ser | |
| ENST00000528862.2:c.93+30C>T (LBHD1) | ENSP00000434489.2:n.93+30C>T | |
| ENST00000531323.1:c.265G>A (UQCC3) | ENSP00000432692.1:p.Gly89Ser | |
| NM_001085372.2:c.265G>A (UQCC3) | NP_001078841.1:p.Gly89Ser | |
| NM_001085372.3:c.265G>A (UQCC3) MANE Select | NP_001078841.1:p.Gly89Ser | |
| NM_001367940.2:c.-544C>T (LBHD1) | NP_001354869.1:n.-544C>T | |
| NM_001367941.2:c.-1061C>T (LBHD1) | NP_001354870.1:n.-1061C>T | |
| NM_001394596.1:c.-350C>T (LBHD1) | NP_001381525.1:n.-350C>T | |
| NM_001394599.1:c.-350C>T (LBHD1) | NP_001381528.1:n.-350C>T | |
| NM_001394601.1:c.-350C>T (LBHD1) | NP_001381530.1:n.-350C>T | |
| NM_001394604.1:c.-592C>T (LBHD1) | NP_001381533.1:n.-592C>T | |
| NM_001394606.1:c.-350C>T (LBHD1) | NP_001381535.1:n.-350C>T | |
| NM_001394607.1:c.-592C>T (LBHD1) | NP_001381536.1:n.-592C>T | |
| NM_001394609.1:c.-737C>T (LBHD1) | NP_001381538.1:n.-737C>T | |
| NM_001394611.1:c.-668C>T (LBHD1) | NP_001381540.1:n.-668C>T | |
| NM_001394612.1:c.-992C>T (LBHD1) | NP_001381541.1:n.-992C>T | |
| NM_024099.5:c.-544C>T (LBHD1) MANE Select | NP_077004.2:n.-544C>T |