Linked Data
ClinVar Variation Id:
1346061
ClinVar RCV Id:
RCV002041334
dbSNP Id:
rs1174478035
gnomAD v2:
5-90106819-A-T
gnomAD v4:
5-90811002-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90811002A>T , CM000667.2:g.90811002A>T | GRCh38 |
| NC_000005.9:g.90106819A>T , CM000667.1:g.90106819A>T | GRCh37 |
| NC_000005.8:g.90142575A>T | NCBI36 |
| NG_007083.1:g.257203A>T | |
| NG_007083.2:g.286659A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15742A>T MANE Select | ENSP00000384582.2:p.Thr5248Ser | |
| ENST00000425867.3:c.4696A>T | ENSP00000392618.3:p.Thr1566Ser | |
| ENST00000638510.1:n.3009A>T | ||
| ENST00000639431.1:c.265+134793A>T | ENSP00000491057.1:n.265+134793A>T | |
| ENST00000640407.1:c.2152A>T | ENSP00000491425.1:p.Thr718Ser | |
| ENST00000405460.6:c.15742A>T | ENSP00000384582.2:p.Thr5248Ser | |
| ENST00000425867.2:c.2725A>T | ENSP00000392618.2:p.Thr909Ser | |
| NM_032119.3:c.15742A>T | NP_115495.3:p.Thr5248Ser | |
| NR_003149.1:n.15755A>T | ||
| XM_011543675.1:c.15739A>T | XP_011541977.1:p.Thr5247Ser | |
| XM_011543676.1:c.15661A>T | XP_011541978.1:p.Thr5221Ser | |
| XM_011543677.1:c.13045A>T | XP_011541979.1:p.Thr4349Ser | |
| NM_032119.4:c.15742A>T MANE Select | NP_115495.3:p.Thr5248Ser | |
| XM_017009963.2:c.15763A>T | XP_016865452.1:p.Thr5255Ser | |
| XM_017009964.2:c.15760A>T | XP_016865453.1:p.Thr5254Ser | |
| XM_017009965.1:c.15760A>T | XP_016865454.1:p.Thr5254Ser | |
| XM_017009966.2:c.15682A>T | XP_016865455.1:p.Thr5228Ser | |
| XM_017009967.1:c.15667A>T | XP_016865456.1:p.Thr5223Ser | |
| XM_017009968.2:c.15583A>T | XP_016865457.1:p.Thr5195Ser | |
| XM_017009969.2:c.15763A>T | XP_016865458.1:p.Thr5255Ser | |
| XM_017009972.1:c.8881A>T | XP_016865461.1:p.Thr2961Ser | |
| XM_017009973.1:c.8860A>T | XP_016865462.1:p.Thr2954Ser | |
| NR_003149.2:n.15758A>T |