Linked Data
ClinVar Variation Id:
161120
ClinVar RCV Id:
RCV000148301
dbSNP Id:
rs606231426
PubMed:
PMID:25008109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62671804T>A , CM000673.2:g.62671804T>A | GRCh38 |
| NC_000011.9:g.62439276T>A , CM000673.1:g.62439276T>A | GRCh37 |
| NC_000011.8:g.62195852T>A | NCBI36 |
| NG_041802.1:g.5151T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354588.8:c.-251A>T (LBHD1) MANE Select | ENSP00000346600.3:n.-251A>T | |
| ENST00000377953.4:c.59T>A (UQCC3) MANE Select | ENSP00000367189.3:p.Val20Glu | |
| ENST00000377953.3:c.59T>A (UQCC3) | ENSP00000367189.3:p.Val20Glu | |
| ENST00000528862.2:c.93+323A>T (LBHD1) | ENSP00000434489.2:n.93+323A>T | |
| ENST00000531323.1:c.59T>A (UQCC3) | ENSP00000432692.1:p.Val20Glu | |
| NM_001085372.2:c.59T>A (UQCC3) | NP_001078841.1:p.Val20Glu | |
| NM_001085372.3:c.59T>A (UQCC3) MANE Select | NP_001078841.1:p.Val20Glu | |
| NM_001367940.2:c.-251A>T (LBHD1) | NP_001354869.1:n.-251A>T | |
| NM_001367941.2:c.-768A>T (LBHD1) | NP_001354870.1:n.-768A>T | |
| NM_001394596.1:c.-57A>T (LBHD1) | NP_001381525.1:n.-57A>T | |
| NM_001394599.1:c.-57A>T (LBHD1) | NP_001381528.1:n.-57A>T | |
| NM_001394601.1:c.-57A>T (LBHD1) | NP_001381530.1:n.-57A>T | |
| NM_001394604.1:c.-299A>T (LBHD1) | NP_001381533.1:n.-299A>T | |
| NM_001394606.1:c.-57A>T (LBHD1) | NP_001381535.1:n.-57A>T | |
| NM_001394607.1:c.-299A>T (LBHD1) | NP_001381536.1:n.-299A>T | |
| NM_001394609.1:c.-444A>T (LBHD1) | NP_001381538.1:n.-444A>T | |
| NM_001394611.1:c.-375A>T (LBHD1) | NP_001381540.1:n.-375A>T | |
| NM_001394612.1:c.-699A>T (LBHD1) | NP_001381541.1:n.-699A>T | |
| NM_024099.5:c.-251A>T (LBHD1) MANE Select | NP_077004.2:n.-251A>T |