Linked Data
ClinVar Variation Id:
303056
dbSNP Id:
rs201959036
ExAC:
11:121178074 C / T
gnomAD v2:
11-121178074-C-T
gnomAD v3:
11-121307365-C-T
gnomAD v4:
11-121307365-C-T
COSMIC:
COSM1638757
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307365C>T , CM000673.2:g.121307365C>T | GRCh38 |
| NC_000011.9:g.121178074C>T , CM000673.1:g.121178074C>T | GRCh37 |
| NC_000011.8:g.120683284C>T | NCBI36 |
| NG_009446.1:g.19687C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.753C>T MANE Select | ENSP00000264027.4:p.Gly251= | |
| ENST00000264027.8:c.753C>T | ENSP00000264027.4:p.Gly251= | |
| ENST00000392789.2:c.753C>T | ENSP00000376539.2:p.Gly251= | |
| ENST00000527183.1:n.1046C>T | ||
| ENST00000534230.5:c.632-92C>T | ENSP00000432550.1:n.632-92C>T | |
| NM_001024956.2:c.753C>T | NP_001020127.1:p.Gly251= | |
| NM_006918.4:c.753C>T | NP_008849.2:p.Gly251= | |
| NM_006918.5:c.753C>T MANE Select | NP_008849.2:p.Gly251= | |
| NM_001024956.3:c.753C>T | NP_001020127.1:p.Gly251= |