Linked Data
dbSNP Id:
rs1415126258
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585155C>T , CM000673.2:g.67585155C>T | GRCh38 |
| NC_000011.9:g.67352626C>T , CM000673.1:g.67352626C>T | GRCh37 |
| NC_000011.8:g.67109202C>T | NCBI36 |
| NG_012075.1:g.6561C>T , LRG_723:g.6561C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.250C>T | ENSP00000381604.1:p.Gln84Ter | |
| ENST00000398606.10:c.250C>T MANE Select | ENSP00000381607.3:p.Gln84Ter | |
| ENST00000646888.1:c.143C>T | ENSP00000494477.1:p.Pro48Leu | |
| ENST00000398603.5:c.250C>T | ENSP00000381604.1:p.Gln84Ter | |
| ENST00000398606.7:c.250C>T | ENSP00000381607.3:p.Gln84Ter | |
| ENST00000467591.1:n.361C>T | ||
| ENST00000494593.1:n.1045C>T | ||
| ENST00000498765.5:c.313C>T | ||
| NM_000852.3:c.250C>T , LRG_723t1:c.250C>T | NP_000843.1:p.Gln84Ter | |
| NM_000852.4:c.250C>T MANE Select | NP_000843.1:p.Gln84Ter |