Linked Data
ClinVar Variation Id:
95366
dbSNP Id:
rs146216425
ExAC:
X:53407568 G / A
gnomAD v2:
X-53407568-G-A
gnomAD v3:
X-53380647-G-A
gnomAD v4:
X-53380647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53380647G>A , CM000685.2:g.53380647G>A | GRCh38 |
| NC_000023.10:g.53407568G>A , CM000685.1:g.53407568G>A | GRCh37 |
| NC_000023.9:g.53424293G>A | NCBI36 |
| NG_006988.2:g.47024C>T , LRG_773:g.47024C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322213.9:c.3591C>T MANE Select | ENSP00000323421.3:p.Ala1197= | |
| ENST00000674590.1:c.2823C>T | ENSP00000502626.1:p.Ala941= | |
| ENST00000675504.1:c.3525C>T | ENSP00000502524.1:p.Ala1175= | |
| ENST00000322213.8:c.3591C>T | ENSP00000323421.3:p.Ala1197= | |
| ENST00000375340.10:c.3525C>T | ENSP00000364489.7:p.Ala1175= | |
| ENST00000470241.2:c.811C>T | ||
| NM_001281463.1:c.3525C>T , LRG_773t1:c.3525C>T | NP_001268392.1:p.Ala1175= | |
| NM_006306.3:c.3591C>T , LRG_773t2:c.3591C>T | NP_006297.2:p.Ala1197= | |
| NM_006306.4:c.3591C>T MANE Select | NP_006297.2:p.Ala1197= |