Linked Data
dbSNP Id:
rs769576029
ExAC:
1:27105618 G / A
gnomAD v2:
1-27105618-G-A
gnomAD v3:
1-26779127-G-A
gnomAD v4:
1-26779127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26779127G>A , CM000663.2:g.26779127G>A | GRCh38 |
| NC_000001.10:g.27105618G>A , CM000663.1:g.27105618G>A | GRCh37 |
| NC_000001.9:g.26978205G>A | NCBI36 |
| NG_029965.1:g.88097G>A , LRG_875:g.88097G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.5229G>A MANE Select | ENSP00000320485.7:p.Thr1743= | |
| ENST00000374152.7:c.4080G>A | ENSP00000363267.2:p.Thr1360= | |
| ENST00000430799.7:c.4077G>A | ENSP00000390317.3:p.Thr1359= | |
| ENST00000466382.2:c.646G>A | ||
| ENST00000636219.1:c.4083G>A | ENSP00000489842.1:p.Thr1361= | |
| ENST00000637788.1:n.1029G>A | ||
| ENST00000324856.11:c.5229G>A | ENSP00000320485.7:p.Thr1743= | |
| ENST00000374152.6:c.4080G>A | ENSP00000363267.2:p.Thr1360= | |
| ENST00000430799.6:c.1918G>A | ||
| ENST00000457599.6:c.4578G>A | ENSP00000387636.2:p.Thr1526= | |
| ENST00000466382.1:c.646G>A | ||
| ENST00000532781.1:c.727G>A | ||
| NM_006015.4:c.5229G>A , LRG_875t1:c.5229G>A | NP_006006.3:p.Thr1743= | |
| NM_139135.2:c.4578G>A | NP_624361.1:p.Thr1526= | |
| NM_006015.5:c.5229G>A | NP_006006.3:p.Thr1743= | |
| NM_139135.3:c.4578G>A | NP_624361.1:p.Thr1526= | |
| NM_006015.6:c.5229G>A MANE Select | NP_006006.3:p.Thr1743= | |
| NM_139135.4:c.4578G>A | NP_624361.1:p.Thr1526= |