Linked Data
dbSNP Id:
rs747223564
ExAC:
10:50678915 T / A
gnomAD v2:
10-50678915-T-A
gnomAD v4:
10-49470869-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470869T>A , CM000672.2:g.49470869T>A | GRCh38 |
| NC_000010.10:g.50678915T>A , CM000672.1:g.50678915T>A | GRCh37 |
| NC_000010.9:g.50348921T>A | NCBI36 |
| NG_009442.1:g.73233A>T , LRG_465:g.73233A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3091A>T MANE Select | ENSP00000348089.5:p.Thr1031Ser | |
| ENST00000679552.1:n.162A>T | ||
| ENST00000679871.1:n.237A>T | ||
| ENST00000679974.1:n.140A>T | ||
| ENST00000681632.1:n.4494A>T | ||
| ENST00000681659.1:c.2932A>T | ENSP00000505631.1:p.Thr978Ser | |
| ENST00000355832.9:c.3091A>T | ENSP00000348089.5:p.Thr1031Ser | |
| ENST00000623073.3:c.*1387A>T | ENSP00000485650.1:n.*1387A>T | |
| ENST00000623115.3:c.1201A>T | ENSP00000485321.1:p.Thr401Ser | |
| ENST00000624341.3:c.923A>T | ||
| NM_000124.3:c.3091A>T | NP_000115.1:p.Thr1031Ser | |
| XR_945953.1:n.243-696T>A | ||
| NM_001346440.1:c.3091A>T | NP_001333369.1:p.Thr1031Ser | |
| NM_000124.4:c.3091A>T MANE Select | NP_000115.1:p.Thr1031Ser | |
| NM_001346440.2:c.3091A>T | NP_001333369.1:p.Thr1031Ser |