Linked Data
ClinVar Variation Id:
2066491
ClinVar RCV Id:
RCV002949121
dbSNP Id:
rs1922742786
gnomAD v3:
X-54465689-C-A
gnomAD v4:
X-54465689-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465689C>A , CM000685.2:g.54465689C>A | GRCh38 |
| NC_000023.10:g.54492122C>A , CM000685.1:g.54492122C>A | GRCh37 |
| NC_000023.9:g.54508847C>A | NCBI36 |
| NG_008054.1:g.35478G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1497+7G>T MANE Select | ENSP00000364277.3:n.1497+7G>T | |
| ENST00000375135.3:c.1497+7G>T | ENSP00000364277.3:n.1497+7G>T | |
| NM_004463.2:c.1497+7G>T | NP_004454.2:n.1497+7G>T | |
| NM_004463.3:c.1497+7G>T MANE Select | NP_004454.2:n.1497+7G>T |