Linked Data
ClinVar Variation Id:
287640
dbSNP Id:
rs201794404
ExAC:
22:38119197 G / A
gnomAD v2:
22-38119197-G-A
gnomAD v3:
22-37723190-G-A
gnomAD v4:
22-37723190-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37723190G>A , CM000684.2:g.37723190G>A | GRCh38 |
| NC_000022.10:g.38119197G>A , CM000684.1:g.38119197G>A | GRCh37 |
| NC_000022.9:g.36449143G>A | NCBI36 |
| NG_012857.1:g.31203G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.634G>A MANE Select | ENSP00000496394.1:p.Gly212Ser | |
| ENST00000344404.10:c.*117G>A | ENSP00000340312.6:n.*117G>A | |
| ENST00000406386.7:c.634G>A | ENSP00000384312.3:p.Gly212Ser | |
| ENST00000455236.4:c.1591G>A | ENSP00000477208.1:n.1591G>A | |
| ENST00000492485.5:n.568G>A | ||
| NM_001039141.2:c.634G>A | NP_001034230.1:p.Gly212Ser | |
| NM_001039141.3:c.634G>A MANE Select | NP_001034230.1:p.Gly212Ser |