Linked Data
ClinVar Variation Id:
227066
dbSNP Id:
rs1059046
ExAC:
10:81319214 G / T
gnomAD v2:
10-81319214-G-T
gnomAD v3:
10-79559458-G-T
gnomAD v4:
10-79559458-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.79559458G>T , CM000672.2:g.79559458G>T | GRCh38 |
| NC_000010.10:g.81319214G>T , CM000672.1:g.81319214G>T | GRCh37 |
| NG_013046.1:g.5950C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372325.7:c.26C>A MANE Select | ENSP00000361400.2:p.Thr9Asn | |
| ENST00000640627.1:c.71C>A | ENSP00000492537.1:p.Thr24Asn | |
| ENST00000372325.6:c.26C>A | ENSP00000361400.2:p.Thr9Asn | |
| ENST00000372327.9:c.26C>A | ENSP00000361402.5:p.Thr9Asn | |
| ENST00000417041.1:c.26C>A | ENSP00000397375.1:p.Thr9Asn | |
| ENST00000492049.1:c.26C>A | ENSP00000473275.1:p.Thr9Asn | |
| NM_001098668.2:c.26C>A | NP_001092138.1:p.Thr9Asn | |
| XM_005270128.2:c.77C>A | XP_005270185.1:p.Thr26Asn | |
| XM_005270131.3:c.26C>A | XP_005270188.1:p.Thr9Asn | |
| XM_005270132.3:c.26C>A | XP_005270189.1:p.Thr9Asn | |
| XM_011540124.1:c.26C>A | XP_011538426.1:p.Thr9Asn | |
| XM_011540125.1:c.26C>A | XP_011538427.1:p.Thr9Asn | |
| NM_001098668.3:c.26C>A | NP_001092138.1:p.Thr9Asn | |
| NM_001320813.1:c.26C>A | NP_001307742.1:p.Thr9Asn | |
| NM_001320814.1:c.56C>A | NP_001307743.1:p.Thr19Asn | |
| XM_005270128.3:c.77C>A | XP_005270185.1:p.Thr26Asn | |
| XM_017016608.1:c.26C>A | XP_016872097.1:p.Thr9Asn | |
| NM_001098668.4:c.26C>A MANE Select | NP_001092138.1:p.Thr9Asn | |
| NM_001320813.2:c.26C>A | NP_001307742.1:p.Thr9Asn |