Linked Data
ClinVar Variation Id:
259962
ClinVar RCV Id:
RCV000247032
dbSNP Id:
rs73210414
ExAC:
X:53421653 C / T
gnomAD v2:
X-53421653-C-T
gnomAD v3:
X-53394733-C-T
gnomAD v4:
X-53394733-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53394733C>T , CM000685.2:g.53394733C>T | GRCh38 |
| NC_000023.10:g.53421653C>T , CM000685.1:g.53421653C>T | GRCh37 |
| NC_000023.9:g.53438378C>T | NCBI36 |
| NG_006988.2:g.32938G>A , LRG_773:g.32938G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.2973+45G>A MANE Select | ENSP00000323421.3:n.2973+45G>A | |
| ENST00000674590.1:c.2205+45G>A | ENSP00000502626.1:n.2205+45G>A | |
| ENST00000675504.1:c.2907+45G>A | ENSP00000502524.1:n.2907+45G>A | |
| ENST00000322213.8:c.2973+45G>A | ENSP00000323421.3:n.2973+45G>A | |
| ENST00000375340.10:c.2907+45G>A | ENSP00000364489.7:n.2907+45G>A | |
| ENST00000470241.2:c.263+45G>A | ||
| NM_001281463.1:c.2907+45G>A , LRG_773t1:c.2907+45G>A | NP_001268392.1:n.2907+45G>A | |
| NM_006306.3:c.2973+45G>A , LRG_773t2:c.2973+45G>A | NP_006297.2:n.2973+45G>A | |
| NM_006306.4:c.2973+45G>A MANE Select | NP_006297.2:n.2973+45G>A |