Linked Data
ClinVar Variation Id:
41243
dbSNP Id:
rs267608679
gnomAD v4:
10-78004792-C-T
PubMed:
PMID:22855961
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78004792C>T , CM000672.2:g.78004792C>T | GRCh38 |
| NC_000010.10:g.79764550C>T , CM000672.1:g.79764550C>T | GRCh37 |
| NC_000010.9:g.79434556C>T | NCBI36 |
| NG_029648.1:g.29749G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698727.1:n.1231G>A | ||
| ENST00000698728.1:n.1750G>A | ||
| ENST00000698729.1:n.3296G>A | ||
| ENST00000698730.1:n.3296G>A | ||
| ENST00000698731.1:c.2030G>A | ENSP00000513898.1:p.Cys677Tyr | |
| ENST00000698732.1:c.*1032G>A | ENSP00000513899.1:n.*1032G>A | |
| ENST00000698733.1:c.*1358G>A | ENSP00000513900.1:n.*1358G>A | |
| ENST00000698734.1:c.2171G>A | ENSP00000513901.1:p.Cys724Tyr | |
| ENST00000698735.1:n.2286G>A | ||
| ENST00000698736.1:n.2286G>A | ||
| ENST00000698737.1:n.2286G>A | ||
| ENST00000698738.1:n.2286G>A | ||
| ENST00000698739.1:n.2286G>A | ||
| ENST00000372371.8:c.2171G>A MANE Select | ENSP00000361446.3:p.Cys724Tyr | |
| ENST00000372371.7:c.2171G>A | ENSP00000361446.3:p.Cys724Tyr | |
| ENST00000472014.5:n.393G>A | ||
| ENST00000473588.2:c.834G>A | ||
| NM_007055.3:c.2171G>A | NP_008986.2:p.Cys724Tyr | |
| NM_007055.4:c.2171G>A MANE Select | NP_008986.2:p.Cys724Tyr |