Linked Data
ClinVar Variation Id:
368543
ClinVar RCV Id:
RCV000343963
dbSNP Id:
rs1057515952
gnomAD v3:
X-53374411-C-T
gnomAD v4:
X-53374411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53374411C>T , CM000685.2:g.53374411C>T | GRCh38 |
| NC_000023.10:g.53401332C>T , CM000685.1:g.53401332C>T | GRCh37 |
| NC_000023.9:g.53418057C>T | NCBI36 |
| NG_006988.2:g.53260G>A , LRG_773:g.53260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.*5692G>A MANE Select | ENSP00000323421.3:n.*5692G>A | |
| ENST00000675504.1:c.*5692G>A | ENSP00000502524.1:n.*5692G>A | |
| ENST00000322213.8:c.*5692G>A | ENSP00000323421.3:n.*5692G>A | |
| ENST00000375340.10:c.*5692G>A | ENSP00000364489.7:n.*5692G>A | |
| NM_001281463.1:c.*5692G>A , LRG_773t1:c.*5692G>A | NP_001268392.1:n.*5692G>A | |
| NM_006306.3:c.*5692G>A , LRG_773t2:c.*5692G>A | NP_006297.2:n.*5692G>A | |
| NM_006306.4:c.*5692G>A MANE Select | NP_006297.2:n.*5692G>A |