Linked Data
dbSNP Id:
rs1185147211
gnomAD v3:
11-67521078-G-A
gnomAD v4:
11-67521078-G-A
COSMIC:
COSM3452342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67521078G>A , CM000673.2:g.67521078G>A | GRCh38 |
| NC_000011.9:g.67288549G>A , CM000673.1:g.67288549G>A | GRCh37 |
| NC_000011.8:g.67045125G>A | NCBI36 |
| NG_032982.1:g.7351C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294288.5:c.326C>T MANE Select | ENSP00000294288.4:p.Thr109Ile | |
| ENST00000545205.2:c.*111C>T | ENSP00000446180.1:n.*111C>T | |
| ENST00000636477.1:c.278C>T | ENSP00000490746.1:p.Thr93Ile | |
| ENST00000294288.4:c.326C>T | ENSP00000294288.4:p.Thr109Ile | |
| ENST00000353903.9:c.155C>T | ENSP00000312037.4:p.Thr52Ile | |
| ENST00000545205.1:c.*111C>T | ENSP00000446180.1:n.*111C>T | |
| NM_016366.2:c.326C>T | NP_057450.2:p.Thr109Ile | |
| XM_005274046.1:c.344C>T | XP_005274103.1:p.Thr115Ile | |
| NM_001318496.1:c.344C>T | NP_001305425.1:p.Thr115Ile | |
| NM_001318496.2:c.344C>T | NP_001305425.1:p.Thr115Ile | |
| NM_016366.3:c.326C>T MANE Select | NP_057450.2:p.Thr109Ile |