Linked Data
dbSNP Id:
rs164288
ExAC:
1:160604473 G / A
gnomAD v2:
1-160604473-G-A
gnomAD v3:
1-160634683-G-A
gnomAD v4:
1-160634683-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160634683G>A , CM000663.2:g.160634683G>A | GRCh38 |
| NC_000001.10:g.160604473G>A , CM000663.1:g.160604473G>A | GRCh37 |
| NC_000001.9:g.158871097G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302035.11:c.630C>T MANE Select | ENSP00000306190.6:p.Thr210= | |
| ENST00000235739.6:c.369+2554C>T | ENSP00000235739.6:n.369+2554C>T | |
| ENST00000302035.10:c.630C>T | ENSP00000306190.6:p.Thr210= | |
| ENST00000538290.2:c.630C>T | ENSP00000438406.2:p.Thr210= | |
| NM_003037.3:c.630C>T | NP_003028.1:p.Thr210= | |
| NR_104399.1:n.996C>T | ||
| NR_104400.1:n.996C>T | ||
| NR_104401.1:n.991C>T | ||
| XM_005245456.2:c.630C>T | XP_005245513.1:p.Thr210= | |
| XM_005245457.2:c.630C>T | XP_005245514.1:p.Thr210= | |
| XM_011509905.1:c.213C>T | XP_011508207.1:p.Thr71= | |
| NM_001330754.1:c.630C>T | NP_001317683.1:p.Thr210= | |
| NM_003037.4:c.630C>T | NP_003028.1:p.Thr210= | |
| NR_104399.2:n.996C>T | ||
| NR_104400.2:n.996C>T | ||
| NR_104401.2:n.991C>T | ||
| XM_005245456.4:c.630C>T | XP_005245513.1:p.Thr210= | |
| XM_011509905.3:c.213C>T | XP_011508207.1:p.Thr71= | |
| XM_017002130.2:c.630C>T | XP_016857619.1:p.Thr210= | |
| XM_017002131.2:c.213C>T | XP_016857620.1:p.Thr71= | |
| NR_104399.3:n.729C>T | ||
| NR_104400.3:n.729C>T | ||
| NR_104401.3:n.724C>T | ||
| NM_001330754.2:c.630C>T | NP_001317683.1:p.Thr210= | |
| NM_003037.5:c.630C>T MANE Select | NP_003028.1:p.Thr210= |