Linked Data
dbSNP Id:
rs1846770756
gnomAD v4:
11-6319289-G-C
MyVariant Identifiers:
chr11:g.6340519G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319289G>C , CM000673.2:g.6319289G>C | GRCh38 |
| NC_000011.9:g.6340519G>C , CM000673.1:g.6340519G>C | GRCh37 |
| NC_000011.8:g.6297095G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.660C>G MANE Select | ENSP00000307292.3:p.Ala220= | |
| ENST00000303927.3:c.660C>G | ENSP00000307292.3:p.Ala220= | |
| ENST00000524852.1:n.446C>G | ||
| ENST00000530979.1:c.756C>G | ENSP00000432047.1:p.Ala252= | |
| ENST00000532354.1:n.682C>G | ||
| NM_145040.2:c.660C>G | NP_659477.2:p.Ala220= | |
| XR_930997.1:n.720+1069G>C | ||
| XR_242848.4:n.149G>C | ||
| NM_145040.3:c.660C>G MANE Select | NP_659477.2:p.Ala220= |