Linked Data
ClinVar Variation Id:
1986602
ClinVar RCV Id:
RCV002770633
dbSNP Id:
rs782581458
ExAC:
X:53407666 G / A
gnomAD v2:
X-53407666-G-A
gnomAD v3:
X-53380745-G-A
gnomAD v4:
X-53380745-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380745G>A , CM000685.2:g.53380745G>A | GRCh38 |
| NC_000023.10:g.53407666G>A , CM000685.1:g.53407666G>A | GRCh37 |
| NC_000023.9:g.53424391G>A | NCBI36 |
| NG_006988.2:g.46926C>T , LRG_773:g.46926C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3508-15C>T MANE Select | ENSP00000323421.3:n.3508-15C>T | |
| ENST00000674590.1:c.2740-15C>T | ENSP00000502626.1:n.2740-15C>T | |
| ENST00000675504.1:c.3442-15C>T | ENSP00000502524.1:n.3442-15C>T | |
| ENST00000322213.8:c.3508-15C>T | ENSP00000323421.3:n.3508-15C>T | |
| ENST00000375340.10:c.3442-15C>T | ENSP00000364489.7:n.3442-15C>T | |
| ENST00000470241.2:c.728-15C>T | ||
| NM_001281463.1:c.3442-15C>T , LRG_773t1:c.3442-15C>T | NP_001268392.1:n.3442-15C>T | |
| NM_006306.3:c.3508-15C>T , LRG_773t2:c.3508-15C>T | NP_006297.2:n.3508-15C>T | |
| NM_006306.4:c.3508-15C>T MANE Select | NP_006297.2:n.3508-15C>T |