Linked Data
ClinVar Variation Id:
3009741
ClinVar RCV Id:
RCV003864852
dbSNP Id:
rs748951376
ExAC:
X:9707512 G / A
gnomAD v2:
X-9707512-G-A
gnomAD v4:
X-9739472-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9739472G>A , CM000685.2:g.9739472G>A | GRCh38 |
| NC_000023.10:g.9707512G>A , CM000685.1:g.9707512G>A | GRCh37 |
| NC_000023.9:g.9667512G>A | NCBI36 |
| NG_009074.1:g.31406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.1120+13C>T (GPR143) MANE Select | ENSP00000417161.1:n.1120+13C>T | |
| ENST00000647060.1:c.1555-1310G>A (TBL1X) | ENSP00000495467.1:n.1555-1310G>A | |
| ENST00000467482.5:c.1120+13C>T (GPR143) | ENSP00000417161.1:n.1120+13C>T | |
| ENST00000487206.1:n.235+13C>T (GPR143) | ||
| NM_000273.2:c.1120+13C>T (GPR143) | NP_000264.2:n.1120+13C>T | |
| XM_005274541.2:c.1120+13C>T (GPR143) | XP_005274598.1:n.1120+13C>T | |
| XR_950507.1:n.35+753G>A | ||
| XM_005274541.3:c.1120+13C>T (GPR143) | XP_005274598.1:n.1120+13C>T | |
| XM_024452387.1:c.868+13C>T (GPR143) | XP_024308155.1:n.868+13C>T | |
| XM_024452388.1:c.868+13C>T (GPR143) | XP_024308156.1:n.868+13C>T | |
| NM_000273.3:c.1120+13C>T (GPR143) MANE Select | NP_000264.2:n.1120+13C>T |