Linked Data
ClinVar Variation Id:
515310
ClinVar RCV Id:
RCV000612700
dbSNP Id:
rs1158663274
gnomAD v4:
X-136147621-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136147621C>T , CM000685.2:g.136147621C>T | GRCh38 |
| NC_000023.10:g.135229780C>T , CM000685.1:g.135229780C>T | GRCh37 |
| NC_000023.9:g.135057446C>T | NCBI36 |
| NG_015895.1:g.5222C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394155.8:c.-108C>T MANE Plus Clinical | ENSP00000377710.2:n.-108C>T | |
| ENST00000651929.2:c.-108C>T | ENSP00000499016.1:n.-108C>T | |
| ENST00000652457.1:c.-108C>T | ENSP00000498503.1:n.-108C>T | |
| ENST00000652745.1:c.-204C>T | ENSP00000498581.1:n.-204C>T | |
| ENST00000370690.7:c.-108C>T | ENSP00000359724.3:n.-108C>T | |
| ENST00000394155.6:c.-108C>T | ENSP00000377710.2:n.-108C>T | |
| ENST00000618438.4:c.-108C>T | ENSP00000477609.1:n.-108C>T | |
| ENST00000627578.2:c.-34C>T | ENSP00000486436.1:n.-34C>T | |
| ENST00000629039.2:c.-101+609C>T | ENSP00000486439.1:n.-101+609C>T | |
| NM_001159702.2:c.-108C>T | NP_001153174.1:n.-108C>T | |
| NM_001159703.1:c.-108C>T | NP_001153175.1:n.-108C>T | |
| NM_001449.4:c.-108C>T | NP_001440.2:n.-108C>T | |
| NR_027621.1:n.311+609C>T | ||
| NM_001449.5:c.-108C>T | NP_001440.2:n.-108C>T | |
| NM_001159702.3:c.-108C>T MANE Plus Clinical | NP_001153174.1:n.-108C>T | |
| NM_001159703.2:c.-108C>T | NP_001153175.1:n.-108C>T | |
| NR_027621.2:n.311+609C>T |