Linked Data
dbSNP Id:
rs755751458
ExAC:
11:118210508 T / C
gnomAD v2:
11-118210508-T-C
gnomAD v4:
11-118339793-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339793T>C , CM000673.2:g.118339793T>C | GRCh38 |
| NC_000011.9:g.118210508T>C , CM000673.1:g.118210508T>C | GRCh37 |
| NC_000011.8:g.117715718T>C | NCBI36 |
| NG_007566.1:g.450T>C , LRG_39:g.450T>C | |
| NG_009891.1:g.7952A>G , LRG_37:g.7952A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.875A>G | ||
| ENST00000695667.1:n.393A>G | ||
| ENST00000695668.1:n.2373A>G | ||
| ENST00000300692.9:c.388A>G MANE Select | ENSP00000300692.4:p.Thr130Ala | |
| ENST00000300692.8:c.388A>G | ENSP00000300692.4:p.Thr130Ala | |
| ENST00000392884.2:c.275-299A>G | ENSP00000376622.2:n.275-299A>G | |
| ENST00000526561.1:n.80-299A>G | ||
| ENST00000529594.5:c.169A>G | ENSP00000437335.1:p.Thr57Ala | |
| ENST00000534687.5:c.288-299A>G | ||
| NM_000732.4:c.388A>G , LRG_37t1:c.388A>G | NP_000723.1:p.Thr130Ala | |
| NM_001040651.1:c.275-299A>G | NP_001035741.1:n.275-299A>G | |
| NM_001040651.2:c.275-299A>G | NP_001035741.1:n.275-299A>G | |
| NM_000732.6:c.388A>G MANE Select | NP_000723.1:p.Thr130Ala |