Linked Data
ClinVar Variation Id:
487636
dbSNP Id:
rs727505266
gnomAD v2:
11-47365047-C-G
gnomAD v4:
11-47343496-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47343496C>G , CM000673.2:g.47343496C>G | GRCh38 |
| NC_000011.9:g.47365047C>G , CM000673.1:g.47365047C>G | GRCh37 |
| NC_000011.8:g.47321623C>G | NCBI36 |
| NG_007667.1:g.14207G>C , LRG_386:g.14207G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1219G>C MANE Select | ENSP00000442795.1:p.Gly407Arg | |
| ENST00000256993.8:c.1219G>C | ENSP00000256993.5:p.Gly407Arg | |
| ENST00000399249.6:c.1219G>C | ENSP00000382193.2:p.Gly407Arg | |
| ENST00000544791.1:c.1219G>C | ENSP00000444259.1:p.Gly407Arg | |
| ENST00000545968.5:c.1219G>C | ENSP00000442795.1:p.Gly407Arg | |
| NM_000256.3:c.1219G>C , LRG_386t1:c.1219G>C MANE Select | NP_000247.2:p.Gly407Arg | |
| XM_011520117.1:c.1201G>C | XP_011518419.1:p.Gly401Arg | |
| XM_011520118.1:c.1219G>C | XP_011518420.1:p.Gly407Arg |