Linked Data
ClinVar Variation Id:
1590961
dbSNP Id:
rs781873202
ExAC:
X:53408026 G / A
gnomAD v2:
X-53408026-G-A
gnomAD v3:
X-53381105-G-A
gnomAD v4:
X-53381105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53381105G>A , CM000685.2:g.53381105G>A | GRCh38 |
| NC_000023.10:g.53408026G>A , CM000685.1:g.53408026G>A | GRCh37 |
| NC_000023.9:g.53424751G>A | NCBI36 |
| NG_006988.2:g.46566C>T , LRG_773:g.46566C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322213.9:c.3438-18C>T MANE Select | ENSP00000323421.3:n.3438-18C>T | |
| ENST00000674590.1:c.2670-18C>T | ENSP00000502626.1:n.2670-18C>T | |
| ENST00000675504.1:c.3372-18C>T | ENSP00000502524.1:n.3372-18C>T | |
| ENST00000322213.8:c.3438-18C>T | ENSP00000323421.3:n.3438-18C>T | |
| ENST00000375340.10:c.3372-18C>T | ENSP00000364489.7:n.3372-18C>T | |
| ENST00000470241.2:c.728-375C>T | ||
| NM_001281463.1:c.3372-18C>T , LRG_773t1:c.3372-18C>T | NP_001268392.1:n.3372-18C>T | |
| NM_006306.3:c.3438-18C>T , LRG_773t2:c.3438-18C>T | NP_006297.2:n.3438-18C>T | |
| NM_006306.4:c.3438-18C>T MANE Select | NP_006297.2:n.3438-18C>T |