Linked Data
gnomAD v2:
11-6340471-A-G
gnomAD v4:
11-6319241-A-G
MyVariant Identifiers:
chr11:g.6340471A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319241A>G , CM000673.2:g.6319241A>G | GRCh38 |
| NC_000011.9:g.6340471A>G , CM000673.1:g.6340471A>G | GRCh37 |
| NC_000011.8:g.6297047A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.708T>C MANE Select | ENSP00000307292.3:p.Pro236= | |
| ENST00000303927.3:c.708T>C | ENSP00000307292.3:p.Pro236= | |
| ENST00000524852.1:n.494T>C | ||
| ENST00000530979.1:c.804T>C | ENSP00000432047.1:p.Pro268= | |
| ENST00000532354.1:n.730T>C | ||
| NM_145040.2:c.708T>C | NP_659477.2:p.Pro236= | |
| XR_930997.1:n.720+1021A>G | ||
| XR_242848.4:n.101A>G | ||
| NM_145040.3:c.708T>C MANE Select | NP_659477.2:p.Pro236= |