Linked Data
ClinVar Variation Id:
641542
dbSNP Id:
rs767109665
gnomAD v2:
12-12871111-G-T
gnomAD v3:
12-12718177-G-T
gnomAD v4:
12-12718177-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12718177G>T , CM000674.2:g.12718177G>T | GRCh38 |
| NC_000012.11:g.12871111G>T , CM000674.1:g.12871111G>T | GRCh37 |
| NC_000012.10:g.12762378G>T | NCBI36 |
| NG_016341.1:g.5810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.338G>T | ENSP00000507272.1:p.Arg113Leu | |
| ENST00000682620.1:n.1631-648G>T | ||
| ENST00000684771.1:n.585-648G>T | ||
| ENST00000228872.9:c.338G>T MANE Select | ENSP00000228872.4:p.Arg113Leu | |
| ENST00000228872.8:c.338G>T | ENSP00000228872.4:p.Arg113Leu | |
| ENST00000396340.1:c.338G>T | ENSP00000379629.1:p.Arg113Leu | |
| ENST00000442489.1:c.193+124G>T | ENSP00000407597.1:n.193+124G>T | |
| ENST00000477087.1:n.155-648G>T | ||
| NM_004064.4:c.338G>T | NP_004055.1:p.Arg113Leu | |
| NM_004064.5:c.338G>T MANE Select | NP_004055.1:p.Arg113Leu |