Linked Data
MyVariant Identifiers:
chr11:g.6340417C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319187C>A , CM000673.2:g.6319187C>A | GRCh38 |
| NC_000011.9:g.6340417C>A , CM000673.1:g.6340417C>A | GRCh37 |
| NC_000011.8:g.6296993C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.762G>T MANE Select | ENSP00000307292.3:p.Leu254= | |
| ENST00000303927.3:c.762G>T | ENSP00000307292.3:p.Leu254= | |
| ENST00000524852.1:n.548G>T | ||
| ENST00000530979.1:c.858G>T | ENSP00000432047.1:p.Leu286= | |
| ENST00000532354.1:n.784G>T | ||
| NM_145040.2:c.762G>T | NP_659477.2:p.Leu254= | |
| XR_930997.1:n.720+967C>A | ||
| XR_242848.4:n.47C>A | ||
| NM_145040.3:c.762G>T MANE Select | NP_659477.2:p.Leu254= |