Linked Data
ClinVar Variation Id:
376907
dbSNP Id:
rs143509965
ExAC:
11:62439530 T / G
gnomAD v2:
11-62439530-T-G
gnomAD v3:
11-62672058-T-G
gnomAD v4:
11-62672058-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62672058T>G , CM000673.2:g.62672058T>G | GRCh38 |
| NC_000011.9:g.62439530T>G , CM000673.1:g.62439530T>G | GRCh37 |
| NC_000011.8:g.62196106T>G | NCBI36 |
| NG_041802.1:g.5405T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354588.8:c.-505A>C (LBHD1) MANE Select | ENSP00000346600.3:n.-505A>C | |
| ENST00000377953.4:c.226T>G (UQCC3) MANE Select | ENSP00000367189.3:p.Trp76Gly | |
| ENST00000377953.3:c.226T>G (UQCC3) | ENSP00000367189.3:p.Trp76Gly | |
| ENST00000528862.2:c.93+69A>C (LBHD1) | ENSP00000434489.2:n.93+69A>C | |
| ENST00000531323.1:c.226T>G (UQCC3) | ENSP00000432692.1:p.Trp76Gly | |
| NM_001085372.2:c.226T>G (UQCC3) | NP_001078841.1:p.Trp76Gly | |
| NM_001085372.3:c.226T>G (UQCC3) MANE Select | NP_001078841.1:p.Trp76Gly | |
| NM_001367940.2:c.-505A>C (LBHD1) | NP_001354869.1:n.-505A>C | |
| NM_001367941.2:c.-1022A>C (LBHD1) | NP_001354870.1:n.-1022A>C | |
| NM_001394596.1:c.-311A>C (LBHD1) | NP_001381525.1:n.-311A>C | |
| NM_001394599.1:c.-311A>C (LBHD1) | NP_001381528.1:n.-311A>C | |
| NM_001394601.1:c.-311A>C (LBHD1) | NP_001381530.1:n.-311A>C | |
| NM_001394604.1:c.-553A>C (LBHD1) | NP_001381533.1:n.-553A>C | |
| NM_001394606.1:c.-311A>C (LBHD1) | NP_001381535.1:n.-311A>C | |
| NM_001394607.1:c.-553A>C (LBHD1) | NP_001381536.1:n.-553A>C | |
| NM_001394609.1:c.-698A>C (LBHD1) | NP_001381538.1:n.-698A>C | |
| NM_001394611.1:c.-629A>C (LBHD1) | NP_001381540.1:n.-629A>C | |
| NM_001394612.1:c.-953A>C (LBHD1) | NP_001381541.1:n.-953A>C | |
| NM_024099.5:c.-505A>C (LBHD1) MANE Select | NP_077004.2:n.-505A>C |