Linked Data
ClinVar Variation Id:
427778
ClinVar RCV Id:
RCV000490794
dbSNP Id:
rs1114167441
PubMed:
PMID:27329731
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71298508G>T , CM000685.2:g.71298508G>T | GRCh38 |
| NC_000023.10:g.70518358G>T , CM000685.1:g.70518358G>T | GRCh37 |
| NC_000023.9:g.70435083G>T | NCBI36 |
| NG_046742.1:g.20317G>T | |
| NG_054891.1:g.2234G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276079.13:c.1171G>T MANE Select | ENSP00000276079.8:p.Gly391Cys | |
| ENST00000373856.8:c.1171G>T | ENSP00000362963.4:p.Gly391Cys | |
| ENST00000420903.6:c.1171G>T | ENSP00000410299.2:p.Gly391Cys | |
| ENST00000450092.6:c.1171G>T | ENSP00000415777.2:p.Gly391Cys | |
| ENST00000454976.2:c.1171G>T | ENSP00000406673.2:p.Gly391Cys | |
| ENST00000471419.7:n.3516G>T | ||
| ENST00000473525.2:n.1879G>T | ||
| ENST00000676495.1:n.2582G>T | ||
| ENST00000676499.1:n.2127G>T | ||
| ENST00000676797.1:c.904G>T | ENSP00000503920.1:p.Gly302Cys | |
| ENST00000677014.1:c.*998G>T | ENSP00000503813.1:n.*998G>T | |
| ENST00000677218.1:n.2342G>T | ||
| ENST00000677245.1:c.*1380G>T | ENSP00000503929.1:n.*1380G>T | |
| ENST00000677274.1:c.1171G>T | ENSP00000504314.1:p.Gly391Cys | |
| ENST00000677446.1:c.1171G>T | ENSP00000503031.1:p.Gly391Cys | |
| ENST00000677612.1:c.1171G>T | ENSP00000504351.1:p.Gly391Cys | |
| ENST00000677766.1:n.2253G>T | ||
| ENST00000677826.1:n.1913G>T | ||
| ENST00000677879.1:c.991G>T | ENSP00000504090.1:p.Gly331Cys | |
| ENST00000677977.1:n.3003G>T | ||
| ENST00000678231.1:c.1171G>T | ENSP00000503233.1:p.Gly391Cys | |
| ENST00000678323.1:n.2269G>T | ||
| ENST00000678335.1:c.*84G>T | ENSP00000503769.1:n.*84G>T | |
| ENST00000678437.1:c.1162G>T | ENSP00000504007.1:p.Gly388Cys | |
| ENST00000678660.1:c.1186G>T | ENSP00000504665.1:p.Gly396Cys | |
| ENST00000678830.1:c.1261G>T | ENSP00000504263.1:p.Gly421Cys | |
| ENST00000679029.1:c.1068G>T | ENSP00000504193.1:p.Glu356Asp | |
| ENST00000679267.1:n.2253G>T | ||
| ENST00000276079.12:c.1171G>T | ENSP00000276079.8:p.Gly391Cys | |
| ENST00000373841.5:c.1171G>T | ENSP00000362947.1:p.Gly391Cys | |
| ENST00000373856.7:c.1171G>T | ENSP00000362963.3:p.Gly391Cys | |
| ENST00000472185.1:n.61-2011G>T | ||
| ENST00000473525.1:n.945G>T | ||
| ENST00000474431.5:n.206G>T | ||
| ENST00000490044.5:n.1878G>T | ||
| ENST00000535149.5:c.904G>T | ENSP00000441364.1:p.Gly302Cys | |
| NM_001145408.1:c.1171G>T | NP_001138880.1:p.Gly391Cys | |
| NM_001145409.1:c.1171G>T | NP_001138881.1:p.Gly391Cys | |
| NM_001145410.1:c.904G>T | NP_001138882.1:p.Gly302Cys | |
| NM_007363.4:c.1171G>T | NP_031389.3:p.Gly391Cys | |
| NM_007363.5:c.1171G>T MANE Select | NP_031389.3:p.Gly391Cys | |
| NM_001145408.2:c.1171G>T | NP_001138880.1:p.Gly391Cys | |
| NM_001145409.2:c.1171G>T | NP_001138881.1:p.Gly391Cys | |
| NM_001145410.2:c.904G>T | NP_001138882.1:p.Gly302Cys |