Linked Data
ClinVar Variation Id:
2007847
ClinVar RCV Id:
RCV002833416
dbSNP Id:
rs1922740179
gnomAD v4:
X-54465605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465605G>A , CM000685.2:g.54465605G>A | GRCh38 |
| NC_000023.10:g.54492038G>A , CM000685.1:g.54492038G>A | GRCh37 |
| NC_000023.9:g.54508763G>A | NCBI36 |
| NG_008054.1:g.35562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1498-16C>T MANE Select | ENSP00000364277.3:n.1498-16C>T | |
| ENST00000375135.3:c.1498-16C>T | ENSP00000364277.3:n.1498-16C>T | |
| NM_004463.2:c.1498-16C>T | NP_004454.2:n.1498-16C>T | |
| NM_004463.3:c.1498-16C>T MANE Select | NP_004454.2:n.1498-16C>T |