Linked Data
ClinVar Variation Id:
262225
dbSNP Id:
rs7536561
ExAC:
1:180243524 A / G
gnomAD v2:
1-180243524-A-G
gnomAD v3:
1-180274389-A-G
gnomAD v4:
1-180274389-A-G
PubMed:
PMID:23199197
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.180274389A>G , CM000663.2:g.180274389A>G | GRCh38 |
| NC_000001.10:g.180243524A>G , CM000663.1:g.180243524A>G | GRCh37 |
| NC_000001.9:g.178510147A>G | NCBI36 |
| NG_008081.1:g.49083A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263726.4:c.983A>G (LHX4) MANE Select | ENSP00000263726.2:p.Asn328Ser | |
| ENST00000642319.1:c.*936+262T>C (ACBD6) | ENSP00000495710.1:n.*936+262T>C | |
| ENST00000645415.1:c.*1169+262T>C (ACBD6) | ENSP00000494507.1:n.*1169+262T>C | |
| ENST00000263726.3:c.983A>G (LHX4) | ENSP00000263726.2:p.Asn328Ser | |
| ENST00000415414.5:n.31+262T>C (ACBD6) | ||
| ENST00000440959.2:n.1574+262T>C (ACBD6) | ||
| ENST00000622400.1:n.63+262T>C (ACBD6) | ||
| NM_033343.3:c.983A>G (LHX4) | NP_203129.1:p.Asn328Ser | |
| NR_037642.1:n.31+262T>C (LHX4-AS1) | ||
| XM_011510105.1:c.800A>G (LHX4) | XP_011508407.1:p.Asn267Ser | |
| XM_011510106.1:c.800A>G (LHX4) | XP_011508408.1:p.Asn267Ser | |
| XM_011510107.1:c.758A>G (LHX4) | XP_011508409.1:p.Asn253Ser | |
| XM_011510108.1:c.758A>G (LHX4) | XP_011508410.1:p.Asn253Ser | |
| XM_011510105.2:c.800A>G (LHX4) | XP_011508407.1:p.Asn267Ser | |
| XM_011510106.3:c.800A>G (LHX4) | XP_011508408.1:p.Asn267Ser | |
| XM_011510108.2:c.758A>G (LHX4) | XP_011508410.1:p.Asn253Ser | |
| XM_017002755.1:c.758A>G (LHX4) | XP_016858244.1:p.Asn253Ser | |
| XR_001737484.2:n.2358T>C (ACBD6) | ||
| XR_001737485.2:n.2341T>C (ACBD6) | ||
| XR_002957801.1:n.2260T>C (ACBD6) | ||
| XR_921977.3:n.2485T>C (ACBD6) | ||
| XR_921978.3:n.2489T>C (ACBD6) | ||
| NM_033343.4:c.983A>G (LHX4) MANE Select | NP_203129.1:p.Asn328Ser |