Linked Data
ClinVar Variation Id:
1732573
dbSNP Id:
rs774963923
ExAC:
11:2466682 C / T
gnomAD v2:
11-2466682-C-T
gnomAD v3:
11-2445452-C-T
gnomAD v4:
11-2445452-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2445452C>T , CM000673.2:g.2445452C>T | GRCh38 |
| NC_000011.9:g.2466682C>T , CM000673.1:g.2466682C>T | GRCh37 |
| NC_000011.8:g.2423258C>T | NCBI36 |
| NG_008935.1:g.5462C>T , LRG_287:g.5462C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000496887.7:c.93C>T | ENSP00000434560.2:p.Thr31= | |
| ENST00000646564.2:c.354C>T | ENSP00000495806.2:p.Thr118= | |
| ENST00000155840.12:c.354C>T MANE Select | ENSP00000155840.2:p.Thr118= | |
| ENST00000155840.9:c.354C>T | ENSP00000155840.2:p.Thr118= | |
| ENST00000345015.4:n.131C>T | ||
| ENST00000496887.6:c.93C>T | ENSP00000434560.1:p.Thr31= | |
| NM_000218.2:c.354C>T , LRG_287t1:c.354C>T | NP_000209.2:p.Thr118= | |
| NM_000218.3:c.354C>T MANE Select | NP_000209.2:p.Thr118= |