Linked Data
ClinVar Variation Id:
421740
ClinVar RCV Id:
RCV000483949
dbSNP Id:
rs1064795335
gnomAD v4:
X-41214594-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41214594C>A , CM000685.2:g.41214594C>A | GRCh38 |
| NC_000023.10:g.41073847C>A , CM000685.1:g.41073847C>A | GRCh37 |
| NC_000023.9:g.40958791C>A | NCBI36 |
| NG_012547.1:g.133960C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703986.1:c.5231C>A | ENSP00000515603.1:p.Thr1744Asn | |
| ENST00000703987.1:c.5231C>A | ENSP00000515604.1:p.Thr1744Asn | |
| ENST00000704649.1:c.3685-17793C>A | ENSP00000515974.1:n.3685-17793C>A | |
| ENST00000704650.1:c.5216C>A | ENSP00000515975.1:p.Thr1739Asn | |
| ENST00000704651.1:c.5063C>A | ENSP00000515976.1:p.Thr1688Asn | |
| ENST00000704652.1:c.4315C>A | ||
| ENST00000704654.1:c.2170C>A | ||
| ENST00000704655.1:c.1359C>A | ENSP00000515980.1:n.1359C>A | |
| ENST00000704656.1:c.783-1305C>A | ENSP00000515981.1:n.783-1305C>A | |
| ENST00000324545.9:c.5216C>A | ENSP00000316357.6:p.Thr1739Asn | |
| ENST00000378308.7:c.5216C>A MANE Select | ENSP00000367558.2:p.Thr1739Asn | |
| ENST00000324545.8:c.5216C>A | ENSP00000316357.6:p.Thr1739Asn | |
| ENST00000378308.6:c.5216C>A | ENSP00000367558.2:p.Thr1739Asn | |
| NM_001039590.2:c.5216C>A | NP_001034679.2:p.Thr1739Asn | |
| NM_001039591.2:c.5216C>A | NP_001034680.2:p.Thr1739Asn | |
| XM_005272675.3:c.5231C>A | XP_005272732.1:p.Thr1744Asn | |
| XM_005272676.3:c.5231C>A | XP_005272733.1:p.Thr1744Asn | |
| XM_005272675.4:c.5231C>A | XP_005272732.1:p.Thr1744Asn | |
| XM_005272676.4:c.5231C>A | XP_005272733.1:p.Thr1744Asn | |
| NM_001039591.3:c.5216C>A MANE Select | NP_001034680.2:p.Thr1739Asn | |
| NM_001039590.3:c.5216C>A | NP_001034679.2:p.Thr1739Asn |