Linked Data
ClinVar Variation Id:
493525
dbSNP Id:
rs782515915
ExAC:
X:53441701 G / A
gnomAD v2:
X-53441701-G-A
gnomAD v3:
X-53414752-G-A
gnomAD v4:
X-53414752-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53414752G>A , CM000685.2:g.53414752G>A | GRCh38 |
| NC_000023.10:g.53441701G>A , CM000685.1:g.53441701G>A | GRCh37 |
| NC_000023.9:g.53458426G>A | NCBI36 |
| NG_006988.2:g.12919C>T , LRG_773:g.12919C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322213.9:c.411+6C>T MANE Select | ENSP00000323421.3:n.411+6C>T | |
| ENST00000674590.1:c.345+6C>T | ENSP00000502626.1:n.345+6C>T | |
| ENST00000675065.1:n.465+6C>T | ||
| ENST00000675504.1:c.345+6C>T | ENSP00000502524.1:n.345+6C>T | |
| ENST00000322213.8:c.411+6C>T | ENSP00000323421.3:n.411+6C>T | |
| ENST00000375340.10:c.345+6C>T | ENSP00000364489.7:n.345+6C>T | |
| ENST00000428014.1:c.345+6C>T | ENSP00000413509.2:n.345+6C>T | |
| ENST00000463684.1:c.110-1317C>T | ENSP00000476958.1:n.110-1317C>T | |
| NM_001281463.1:c.345+6C>T , LRG_773t1:c.345+6C>T | NP_001268392.1:n.345+6C>T | |
| NM_006306.3:c.411+6C>T , LRG_773t2:c.411+6C>T | NP_006297.2:n.411+6C>T | |
| NM_006306.4:c.411+6C>T MANE Select | NP_006297.2:n.411+6C>T |