Linked Data
ClinVar Variation Id:
1517803
ClinVar RCV Id:
RCV002027620
dbSNP Id:
rs370176426
ExAC:
5:90106820 C / T
gnomAD v2:
5-90106820-C-T
gnomAD v3:
5-90811003-C-T
gnomAD v4:
5-90811003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90811003C>T , CM000667.2:g.90811003C>T | GRCh38 |
| NC_000005.9:g.90106820C>T , CM000667.1:g.90106820C>T | GRCh37 |
| NC_000005.8:g.90142576C>T | NCBI36 |
| NG_007083.1:g.257204C>T | |
| NG_007083.2:g.286660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.15743C>T MANE Select | ENSP00000384582.2:p.Thr5248Ile | |
| ENST00000425867.3:c.4697C>T | ENSP00000392618.3:p.Thr1566Ile | |
| ENST00000638510.1:n.3010C>T | ||
| ENST00000639431.1:c.265+134794C>T | ENSP00000491057.1:n.265+134794C>T | |
| ENST00000640407.1:c.2153C>T | ENSP00000491425.1:p.Thr718Ile | |
| ENST00000405460.6:c.15743C>T | ENSP00000384582.2:p.Thr5248Ile | |
| ENST00000425867.2:c.2726C>T | ENSP00000392618.2:p.Thr909Ile | |
| NM_032119.3:c.15743C>T | NP_115495.3:p.Thr5248Ile | |
| NR_003149.1:n.15756C>T | ||
| XM_011543675.1:c.15740C>T | XP_011541977.1:p.Thr5247Ile | |
| XM_011543676.1:c.15662C>T | XP_011541978.1:p.Thr5221Ile | |
| XM_011543677.1:c.13046C>T | XP_011541979.1:p.Thr4349Ile | |
| NM_032119.4:c.15743C>T MANE Select | NP_115495.3:p.Thr5248Ile | |
| XM_017009963.2:c.15764C>T | XP_016865452.1:p.Thr5255Ile | |
| XM_017009964.2:c.15761C>T | XP_016865453.1:p.Thr5254Ile | |
| XM_017009965.1:c.15761C>T | XP_016865454.1:p.Thr5254Ile | |
| XM_017009966.2:c.15683C>T | XP_016865455.1:p.Thr5228Ile | |
| XM_017009967.1:c.15668C>T | XP_016865456.1:p.Thr5223Ile | |
| XM_017009968.2:c.15584C>T | XP_016865457.1:p.Thr5195Ile | |
| XM_017009969.2:c.15764C>T | XP_016865458.1:p.Thr5255Ile | |
| XM_017009972.1:c.8882C>T | XP_016865461.1:p.Thr2961Ile | |
| XM_017009973.1:c.8861C>T | XP_016865462.1:p.Thr2954Ile | |
| NR_003149.2:n.15759C>T |