Linked Data
ClinVar Variation Id:
2462092
dbSNP Id:
rs754756030
ExAC:
12:12871178 T / C
gnomAD v2:
12-12871178-T-C
gnomAD v4:
12-12718244-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718244T>C , CM000674.2:g.12718244T>C | GRCh38 |
| NC_000012.11:g.12871178T>C , CM000674.1:g.12871178T>C | GRCh37 |
| NC_000012.10:g.12762445T>C | NCBI36 |
| NG_016341.1:g.5877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.405T>C | ENSP00000507272.1:p.Thr135= | |
| ENST00000682620.1:n.1631-581T>C | ||
| ENST00000684771.1:n.585-581T>C | ||
| ENST00000228872.9:c.405T>C MANE Select | ENSP00000228872.4:p.Thr135= | |
| ENST00000228872.8:c.405T>C | ENSP00000228872.4:p.Thr135= | |
| ENST00000396340.1:c.405T>C | ENSP00000379629.1:p.Thr135= | |
| ENST00000442489.1:c.193+191T>C | ENSP00000407597.1:n.193+191T>C | |
| ENST00000477087.1:n.155-581T>C | ||
| NM_004064.4:c.405T>C | NP_004055.1:p.Thr135= | |
| NM_004064.5:c.405T>C MANE Select | NP_004055.1:p.Thr135= |