Linked Data
MyVariant Identifiers:
chr11:g.46749558T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46728008T>G , CM000673.2:g.46728008T>G | GRCh38 |
| NC_000011.9:g.46749558T>G , CM000673.1:g.46749558T>G | GRCh37 |
| NC_000011.8:g.46706134T>G | NCBI36 |
| NG_008953.1:g.13816T>G , LRG_551:g.13816T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.1143T>G MANE Select | ENSP00000308541.5:p.Leu381= | |
| ENST00000311907.9:c.1143T>G | ENSP00000308541.5:p.Leu381= | |
| ENST00000530231.5:c.1143T>G | ENSP00000433907.1:p.Leu381= | |
| NM_000506.3:c.1143T>G | NP_000497.1:p.Leu381= | |
| NM_000506.4:c.1143T>G , LRG_551t1:c.1143T>G | NP_000497.1:p.Leu381= | |
| NM_001311257.1:c.1095T>G | NP_001298186.1:p.Leu365= | |
| XR_428840.2:n.1187T>G | ||
| XR_428840.4:n.1178T>G | ||
| NM_000506.5:c.1143T>G MANE Select | NP_000497.1:p.Leu381= | |
| NM_001311257.2:c.1095T>G | NP_001298186.1:p.Leu365= |