Linked Data
ClinVar Variation Id:
1236257
ClinVar RCV Id:
RCV001638244
dbSNP Id:
rs16841013
gnomAD v2:
1-165174959-C-T
gnomAD v3:
1-165205722-C-T
gnomAD v4:
1-165205722-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.165205722C>T , CM000663.2:g.165205722C>T | GRCh38 |
| NC_000001.10:g.165174959C>T , CM000663.1:g.165174959C>T | GRCh37 |
| NC_000001.9:g.163441583C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294816.6:c.988+142G>A (LMX1A) | ENSP00000294816.2:n.988+142G>A | |
| ENST00000342310.7:c.988+142G>A (LMX1A) MANE Select | ENSP00000340226.3:n.988+142G>A | |
| ENST00000367893.4:c.988+142G>A (LMX1A) | ENSP00000356868.4:n.988+142G>A | |
| ENST00000489443.2:n.622+142G>A (LMX1A) | ||
| NM_001174069.1:c.988+142G>A (LMX1A) | NP_001167540.1:n.988+142G>A | |
| NM_177398.3:c.988+142G>A (LMX1A) | NP_796372.1:n.988+142G>A | |
| XM_011509538.1:c.748+142G>A (LMX1A) | XP_011507840.1:n.748+142G>A | |
| XM_011509539.1:c.736+142G>A (LMX1A) | XP_011507841.1:n.736+142G>A | |
| XR_922234.1:n.318C>T (LMX1A-AS2) | ||
| XM_011509538.3:c.748+142G>A (LMX1A) | XP_011507840.1:n.748+142G>A | |
| NM_177398.4:c.988+142G>A (LMX1A) MANE Select | NP_796372.1:n.988+142G>A | |
| NM_001174069.2:c.988+142G>A (LMX1A) | NP_001167540.1:n.988+142G>A |