Linked Data
ClinVar Variation Id:
509463
ClinVar RCV Id:
RCV000611038
dbSNP Id:
rs776099710
ExAC:
11:62439177 G / C
gnomAD v2:
11-62439177-G-C
gnomAD v3:
11-62671705-G-C
gnomAD v4:
11-62671705-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62671705G>C , CM000673.2:g.62671705G>C | GRCh38 |
| NC_000011.9:g.62439177G>C , CM000673.1:g.62439177G>C | GRCh37 |
| NC_000011.8:g.62195753G>C | NCBI36 |
| NG_041802.1:g.5052G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354588.8:c.-152C>G (LBHD1) MANE Select | ENSP00000346600.3:n.-152C>G | |
| ENST00000377953.4:c.-41G>C (UQCC3) MANE Select | ENSP00000367189.3:n.-41G>C | |
| ENST00000354588.7:c.-152C>G (LBHD1) | ENSP00000346600.3:n.-152C>G | |
| ENST00000377953.3:c.-41G>C (UQCC3) | ENSP00000367189.3:n.-41G>C | |
| ENST00000415855.6:c.43C>G (LBHD1) | ENSP00000410979.3:p.Arg15Gly | |
| ENST00000431002.6:c.-1674C>G (LBHD1) | ENSP00000416856.2:n.-1674C>G | |
| ENST00000524759.1:n.61C>G (LBHD1) | ||
| ENST00000528862.2:c.93+422C>G (LBHD1) | ENSP00000434489.2:n.93+422C>G | |
| ENST00000531323.1:c.-41G>C (UQCC3) | ENSP00000432692.1:n.-41G>C | |
| NM_001085372.2:c.-41G>C (UQCC3) | NP_001078841.1:n.-41G>C | |
| NM_024099.3:c.-152C>G (LBHD1) | NP_077004.2:n.-152C>G | |
| NM_001085372.3:c.-41G>C (UQCC3) MANE Select | NP_001078841.1:n.-41G>C | |
| NM_001367940.1:c.-152C>G (LBHD1) | NP_001354869.1:n.-152C>G | |
| NM_001367941.1:c.-669C>G (LBHD1) | NP_001354870.1:n.-669C>G | |
| NR_160410.1:n.79C>G (LBHD1) | ||
| NM_024099.4:c.-152C>G (LBHD1) | NP_077004.2:n.-152C>G | |
| NM_001367940.2:c.-152C>G (LBHD1) | NP_001354869.1:n.-152C>G | |
| NM_001367941.2:c.-669C>G (LBHD1) | NP_001354870.1:n.-669C>G | |
| NM_001394596.1:c.43C>G (LBHD1) | NP_001381525.1:p.Arg15Gly | |
| NM_001394599.1:c.43C>G (LBHD1) | NP_001381528.1:p.Arg15Gly | |
| NM_001394601.1:c.43C>G (LBHD1) | NP_001381530.1:p.Arg15Gly | |
| NM_001394604.1:c.-200C>G (LBHD1) | NP_001381533.1:n.-200C>G | |
| NM_001394606.1:c.43C>G (LBHD1) | NP_001381535.1:p.Arg15Gly | |
| NM_001394607.1:c.-200C>G (LBHD1) | NP_001381536.1:n.-200C>G | |
| NM_001394609.1:c.-345C>G (LBHD1) | NP_001381538.1:n.-345C>G | |
| NM_001394611.1:c.-276C>G (LBHD1) | NP_001381540.1:n.-276C>G | |
| NM_001394612.1:c.-600C>G (LBHD1) | NP_001381541.1:n.-600C>G | |
| NM_024099.5:c.-152C>G (LBHD1) MANE Select | NP_077004.2:n.-152C>G |