Linked Data
dbSNP Id:
rs1571892042
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431382A>G , CM000663.2:g.229431382A>G | GRCh38 |
| NC_000001.10:g.229567129A>G , CM000663.1:g.229567129A>G | GRCh37 |
| NC_000001.9:g.227633752A>G | NCBI36 |
| NG_006672.1:g.7715T>C , LRG_429:g.7715T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.*117T>C | ENSP00000355644.4:n.*117T>C | |
| ENST00000684723.1:c.*117T>C | ENSP00000508084.1:n.*117T>C | |
| ENST00000366683.3:c.*117T>C | ENSP00000355644.3:n.*117T>C | |
| ENST00000366684.7:c.*117T>C MANE Select | ENSP00000355645.3:n.*117T>C | |
| NM_001100.3:c.*117T>C , LRG_429t1:c.*117T>C | NP_001091.1:n.*117T>C | |
| NM_001100.4:c.*117T>C MANE Select | NP_001091.1:n.*117T>C |