Linked Data
dbSNP Id:
rs776947199
ExAC:
3:101476687 T / A
gnomAD v2:
3-101476687-T-A
gnomAD v4:
3-101757843-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101757843T>A , CM000665.2:g.101757843T>A | GRCh38 |
| NC_000003.11:g.101476687T>A , CM000665.1:g.101476687T>A | GRCh37 |
| NC_000003.10:g.102959377T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465011.2:c.*872T>A | ENSP00000419009.1:n.*872T>A | |
| ENST00000467655.2:c.*324T>A | ENSP00000418547.2:n.*324T>A | |
| ENST00000704365.1:c.1237T>A | ENSP00000515873.1:p.Ser413Thr | |
| ENST00000704366.1:c.1135T>A | ENSP00000515874.1:p.Ser379Thr | |
| ENST00000704367.1:c.958T>A | ENSP00000515875.1:p.Ser320Thr | |
| ENST00000704368.1:n.1730T>A | ||
| ENST00000704369.1:c.751T>A | ENSP00000515876.1:p.Ser251Thr | |
| ENST00000704370.1:c.1231T>A | ENSP00000515877.1:p.Ser411Thr | |
| ENST00000704372.1:n.1591T>A | ||
| ENST00000704444.1:c.1021T>A | ENSP00000515896.1:p.Ser341Thr | |
| ENST00000704445.1:c.889T>A | ENSP00000515897.1:p.Ser297Thr | |
| ENST00000704446.1:c.1048+647T>A | ENSP00000515898.1:n.1048+647T>A | |
| ENST00000341893.8:c.1237T>A MANE Select | ENSP00000342510.3:p.Ser413Thr | |
| ENST00000341893.7:c.1237T>A | ENSP00000342510.3:p.Ser413Thr | |
| ENST00000467655.1:c.852T>A | ENSP00000418547.1:n.852T>A | |
| ENST00000489172.5:n.1219T>A | ||
| ENST00000494050.5:c.1060T>A | ENSP00000418185.1:p.Ser354Thr | |
| NM_001303401.1:c.1060T>A | NP_001290330.1:p.Ser354Thr | |
| NM_024548.3:c.1237T>A | NP_078824.2:p.Ser413Thr | |
| XM_006713743.2:c.1135T>A | XP_006713806.1:p.Ser379Thr | |
| XM_011513125.1:c.1021T>A | XP_011511427.1:p.Ser341Thr | |
| XM_011513126.1:c.1021T>A | XP_011511428.1:p.Ser341Thr | |
| XM_011513127.1:c.889T>A | XP_011511429.1:p.Ser297Thr | |
| XM_006713743.4:c.1135T>A | XP_006713806.1:p.Ser379Thr | |
| XM_017007178.2:c.958T>A | XP_016862667.1:p.Ser320Thr | |
| NM_024548.4:c.1237T>A MANE Select | NP_078824.2:p.Ser413Thr | |
| NM_001303401.2:c.1060T>A | NP_001290330.1:p.Ser354Thr |