Linked Data
dbSNP Id:
rs745477465
ExAC:
5:90119358 C / G
gnomAD v2:
5-90119358-C-G
gnomAD v4:
5-90823541-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90823541C>G , CM000667.2:g.90823541C>G | GRCh38 |
| NC_000005.9:g.90119358C>G , CM000667.1:g.90119358C>G | GRCh37 |
| NC_000005.8:g.90155114C>G | NCBI36 |
| NG_007083.1:g.269742C>G | |
| NG_007083.2:g.299198C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.16313C>G MANE Select | ENSP00000384582.2:p.Thr5438Ser | |
| ENST00000425867.3:c.5267C>G | ENSP00000392618.3:p.Thr1756Ser | |
| ENST00000638510.1:n.3580C>G | ||
| ENST00000639431.1:c.265+147332C>G | ENSP00000491057.1:n.265+147332C>G | |
| ENST00000640061.1:n.128+1359C>G | ||
| ENST00000640407.1:c.2723C>G | ENSP00000491425.1:p.Thr908Ser | |
| ENST00000405460.6:c.16313C>G | ENSP00000384582.2:p.Thr5438Ser | |
| ENST00000425867.2:c.3296C>G | ENSP00000392618.2:p.Thr1099Ser | |
| NM_032119.3:c.16313C>G | NP_115495.3:p.Thr5438Ser | |
| NR_003149.1:n.16326C>G | ||
| XM_011543675.1:c.16310C>G | XP_011541977.1:p.Thr5437Ser | |
| XM_011543676.1:c.16232C>G | XP_011541978.1:p.Thr5411Ser | |
| XM_011543677.1:c.13616C>G | XP_011541979.1:p.Thr4539Ser | |
| NM_032119.4:c.16313C>G MANE Select | NP_115495.3:p.Thr5438Ser | |
| XM_017009963.2:c.16334C>G | XP_016865452.1:p.Thr5445Ser | |
| XM_017009964.2:c.16331C>G | XP_016865453.1:p.Thr5444Ser | |
| XM_017009965.1:c.16331C>G | XP_016865454.1:p.Thr5444Ser | |
| XM_017009966.2:c.16253C>G | XP_016865455.1:p.Thr5418Ser | |
| XM_017009967.1:c.16238C>G | XP_016865456.1:p.Thr5413Ser | |
| XM_017009968.2:c.16154C>G | XP_016865457.1:p.Thr5385Ser | |
| XM_017009969.2:c.16334C>G | XP_016865458.1:p.Thr5445Ser | |
| XM_017009972.1:c.9452C>G | XP_016865461.1:p.Thr3151Ser | |
| XM_017009973.1:c.9431C>G | XP_016865462.1:p.Thr3144Ser | |
| NR_003149.2:n.16329C>G |