Linked Data
MyVariant Identifiers:
chr1:g.229567336C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431589C>G , CM000663.2:g.229431589C>G | GRCh38 |
| NC_000001.10:g.229567336C>G , CM000663.1:g.229567336C>G | GRCh37 |
| NC_000001.9:g.227633959C>G | NCBI36 |
| NG_006672.1:g.7508G>C , LRG_429:g.7508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-25G>C | ENSP00000355644.4:n.991-25G>C | |
| ENST00000684723.1:c.909G>C | ENSP00000508084.1:p.Leu303= | |
| ENST00000366683.3:c.675G>C | ENSP00000355644.3:p.Leu225= | |
| ENST00000366684.7:c.1044G>C MANE Select | ENSP00000355645.3:p.Leu348= | |
| NM_001100.3:c.1044G>C , LRG_429t1:c.1044G>C | NP_001091.1:p.Leu348= | |
| NM_001100.4:c.1044G>C MANE Select | NP_001091.1:p.Leu348= |