Linked Data
MyVariant Identifiers:
chr11:g.17575000C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17553453C>G , CM000673.2:g.17553453C>G | GRCh38 |
| NC_000011.9:g.17575000C>G , CM000673.1:g.17575000C>G | GRCh37 |
| NC_000011.8:g.17531576C>G | NCBI36 |
| NG_033191.1:g.11081C>G | |
| NG_033191.2:g.11081C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.510C>G | ENSP00000382323.2:p.Leu170= | |
| ENST00000399397.6:c.474C>G MANE Select | ENSP00000382329.2:p.Leu158= | |
| ENST00000399391.6:c.510C>G | ENSP00000382323.2:p.Leu170= | |
| ENST00000399397.5:c.474C>G | ENSP00000382329.2:p.Leu158= | |
| ENST00000498332.5:n.380C>G | ||
| NM_001277269.1:c.510C>G | NP_001264198.1:p.Leu170= | |
| NM_001292063.1:c.474C>G | NP_001278992.1:p.Leu158= | |
| NM_001277269.2:c.510C>G | NP_001264198.1:p.Leu170= | |
| NM_001292063.2:c.474C>G MANE Select | NP_001278992.1:p.Leu158= |