Linked Data
ClinVar Variation Id:
285886
ClinVar RCV Id:
RCV000293786
dbSNP Id:
rs779743332
gnomAD v3:
15-34227813-C-T
gnomAD v4:
15-34227813-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34227813C>T , CM000677.2:g.34227813C>T | GRCh38 |
| NC_000015.9:g.34520014C>T , CM000677.1:g.34520014C>T | GRCh37 |
| NC_000015.8:g.32307306C>T | NCBI36 |
| NG_054746.1:g.7817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267750.9:c.322C>T MANE Select | ENSP00000267750.4:p.Arg108Ter | |
| ENST00000249209.8:c.322C>T | ENSP00000249209.4:p.Arg108Ter | |
| ENST00000267750.8:c.322C>T | ENSP00000267750.4:p.Arg108Ter | |
| ENST00000557879.1:c.210-306C>T | ENSP00000473881.1:n.210-306C>T | |
| ENST00000558102.1:c.*75C>T | ENSP00000453880.1:n.*75C>T | |
| ENST00000558205.5:c.*75C>T | ENSP00000454042.1:n.*75C>T | |
| ENST00000558810.1:n.275C>T | ||
| ENST00000559078.5:c.303+19C>T | ENSP00000454052.1:n.303+19C>T | |
| ENST00000559421.1:c.202-1940C>T | ENSP00000452672.1:n.202-1940C>T | |
| ENST00000560911.5:c.*75C>T | ENSP00000453610.1:n.*75C>T | |
| ENST00000560947.1:c.119C>T | ||
| ENST00000561246.1:n.1302C>T | ||
| ENST00000561372.1:c.343C>T | ENSP00000453287.1:p.Arg115Ter | |
| NM_001286420.1:c.322C>T | NP_001273349.1:p.Arg108Ter | |
| NM_016454.3:c.322C>T | NP_057538.1:p.Arg108Ter | |
| NM_001351373.1:c.79C>T | NP_001338302.1:p.Arg27Ter | |
| NR_147140.1:n.448C>T | ||
| NM_016454.4:c.322C>T MANE Select | NP_057538.1:p.Arg108Ter | |
| NM_001286420.2:c.322C>T | NP_001273349.1:p.Arg108Ter | |
| NM_001351373.2:c.79C>T | NP_001338302.1:p.Arg27Ter | |
| NR_147140.2:n.429C>T |