Linked Data
ClinVar Variation Id:
410
dbSNP Id:
rs121434508
ExAC:
11:85365183 C / T
gnomAD v2:
11-85365183-C-T
gnomAD v3:
11-85654139-C-T
gnomAD v4:
11-85654139-C-T
COSMIC:
COSM4037185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.85654139C>T , CM000673.2:g.85654139C>T | GRCh38 |
| NC_000011.9:g.85365183C>T , CM000673.1:g.85365183C>T | GRCh37 |
| NC_000011.8:g.85042831C>T | NCBI36 |
| NG_017157.1:g.11221C>T | |
| NG_017157.2:g.11221C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304511.7:c.163C>T MANE Select | ENSP00000306887.2:p.Arg55Ter | |
| ENST00000304511.6:c.163C>T | ENSP00000306887.2:p.Arg55Ter | |
| ENST00000525353.5:c.*65C>T | ENSP00000431993.1:n.*65C>T | |
| ENST00000528105.5:c.-48C>T | ENSP00000436590.1:n.-48C>T | |
| ENST00000531366.5:c.163C>T | ENSP00000436723.1:p.Arg55Ter | |
| ENST00000532180.1:c.-48C>T | ENSP00000434357.1:n.-48C>T | |
| NM_001244735.1:c.-48C>T | NP_001231664.1:n.-48C>T | |
| NM_032273.3:c.163C>T | NP_115649.1:p.Arg55Ter | |
| NM_032273.4:c.163C>T MANE Select | NP_115649.1:p.Arg55Ter | |
| NM_001244735.2:c.-48C>T | NP_001231664.1:n.-48C>T |