Linked Data
ClinVar Variation Id:
190250
dbSNP Id:
rs104894464
COSMIC:
COSM257656
PubMed:
PMID:24167467
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.56802340G>A , CM000676.2:g.56802340G>A | GRCh38 |
| NC_000014.8:g.57269058G>A , CM000676.1:g.57269058G>A | GRCh37 |
| NC_000014.7:g.56338811G>A | NCBI36 |
| NG_008204.1:g.13127C>T | |
| NG_008204.2:g.19354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000554845.2:c.289C>T | ENSP00000451357.2:p.Arg97Ter | |
| ENST00000555804.2:c.265C>T | ENSP00000451272.2:p.Arg89Ter | |
| ENST00000685244.1:c.265C>T | ENSP00000508798.1:p.Arg89Ter | |
| ENST00000339475.10:c.265C>T | ENSP00000343819.5:p.Arg89Ter | |
| ENST00000408990.8:c.265C>T | ENSP00000386185.3:p.Arg89Ter | |
| ENST00000672125.1:c.265C>T | ENSP00000500744.1:p.Arg89Ter | |
| ENST00000672264.2:c.289C>T MANE Select | ENSP00000500115.1:p.Arg97Ter | |
| ENST00000673035.1:c.265C>T | ENSP00000500061.1:p.Arg89Ter | |
| ENST00000673481.1:c.289C>T | ENSP00000500595.1:p.Arg97Ter | |
| ENST00000339475.9:c.289C>T | ENSP00000343819.4:p.Arg97Ter | |
| ENST00000408990.7:c.265C>T | ENSP00000386185.3:p.Arg89Ter | |
| ENST00000554559.5:c.*5C>T | ENSP00000450468.1:n.*5C>T | |
| ENST00000554788.5:c.*5C>T | ENSP00000474486.1:n.*5C>T | |
| ENST00000554845.1:c.289C>T | ENSP00000451357.1:p.Arg97Ter | |
| ENST00000555006.5:c.265C>T | ENSP00000452336.1:p.Arg89Ter | |
| ENST00000555804.1:c.265C>T | ENSP00000451272.1:p.Arg89Ter | |
| NM_001270523.1:c.265C>T | NP_001257452.1:p.Arg89Ter | |
| NM_001270524.1:c.265C>T | NP_001257453.1:p.Arg89Ter | |
| NM_001270525.1:c.289C>T | NP_001257454.1:p.Arg97Ter | |
| NM_021728.3:c.289C>T | NP_068374.1:p.Arg97Ter | |
| NM_172337.2:c.265C>T | NP_758840.1:p.Arg89Ter | |
| NR_073034.1:n.397C>T | ||
| NR_073036.1:n.320C>T | ||
| NM_001270523.2:c.265C>T | NP_001257452.1:p.Arg89Ter | |
| NM_001270524.2:c.265C>T | NP_001257453.1:p.Arg89Ter | |
| NM_001270525.2:c.289C>T | NP_001257454.1:p.Arg97Ter | |
| NM_021728.4:c.289C>T MANE Select | NP_068374.1:p.Arg97Ter | |
| NM_172337.3:c.265C>T | NP_758840.1:p.Arg89Ter | |
| NR_073034.2:n.400C>T | ||
| NR_073036.2:n.324C>T |