Linked Data
MyVariant Identifiers:
chr11:g.6340609T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319379T>C , CM000673.2:g.6319379T>C | GRCh38 |
| NC_000011.9:g.6340609T>C , CM000673.1:g.6340609T>C | GRCh37 |
| NC_000011.8:g.6297185T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.570A>G MANE Select | ENSP00000307292.3:p.Arg190= | |
| ENST00000303927.3:c.570A>G | ENSP00000307292.3:p.Arg190= | |
| ENST00000524852.1:n.356A>G | ||
| ENST00000530979.1:c.666A>G | ENSP00000432047.1:p.Arg222= | |
| ENST00000532354.1:n.592A>G | ||
| NM_145040.2:c.570A>G | NP_659477.2:p.Arg190= | |
| XR_930997.1:n.720+1159T>C | ||
| XR_242848.4:n.239T>C | ||
| NM_145040.3:c.570A>G MANE Select | NP_659477.2:p.Arg190= |