Linked Data
ClinVar Variation Id:
2462755
ClinVar RCV Id:
RCV004257664
dbSNP Id:
rs376757809
ExAC:
11:6340610 C / T
gnomAD v2:
11-6340610-C-T
gnomAD v3:
11-6319380-C-T
gnomAD v4:
11-6319380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319380C>T , CM000673.2:g.6319380C>T | GRCh38 |
| NC_000011.9:g.6340610C>T , CM000673.1:g.6340610C>T | GRCh37 |
| NC_000011.8:g.6297186C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.569G>A MANE Select | ENSP00000307292.3:p.Arg190Gln | |
| ENST00000303927.3:c.569G>A | ENSP00000307292.3:p.Arg190Gln | |
| ENST00000524852.1:n.355G>A | ||
| ENST00000530979.1:c.665G>A | ENSP00000432047.1:p.Arg222Gln | |
| ENST00000532354.1:n.591G>A | ||
| NM_145040.2:c.569G>A | NP_659477.2:p.Arg190Gln | |
| XR_930997.1:n.720+1160C>T | ||
| XR_242848.4:n.240C>T | ||
| NM_145040.3:c.569G>A MANE Select | NP_659477.2:p.Arg190Gln |