Linked Data
dbSNP Id:
rs1590694931
gnomAD v4:
11-6319556-A-C
MyVariant Identifiers:
chr11:g.6340786A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319556A>C , CM000673.2:g.6319556A>C | GRCh38 |
| NC_000011.9:g.6340786A>C , CM000673.1:g.6340786A>C | GRCh37 |
| NC_000011.8:g.6297362A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.393T>G MANE Select | ENSP00000307292.3:p.Gly131= | |
| ENST00000303927.3:c.393T>G | ENSP00000307292.3:p.Gly131= | |
| ENST00000524852.1:n.179T>G | ||
| ENST00000530979.1:c.489T>G | ENSP00000432047.1:p.Gly163= | |
| ENST00000532354.1:n.415T>G | ||
| NM_145040.2:c.393T>G | NP_659477.2:p.Gly131= | |
| XR_930997.1:n.720+1336A>C | ||
| XR_001748105.2:n.14A>C | ||
| XR_001748106.1:n.167A>C | ||
| XR_001748108.2:n.14A>C | ||
| XR_001748109.2:n.23A>C | ||
| XR_242848.4:n.416A>C | ||
| XR_930992.3:n.14A>C | ||
| XR_930994.3:n.14A>C | ||
| XR_930995.3:n.14A>C | ||
| XR_930998.3:n.14A>C | ||
| NM_145040.3:c.393T>G MANE Select | NP_659477.2:p.Gly131= |