Linked Data
ClinVar Variation Id:
423434
ClinVar RCV Id:
RCV000486379
dbSNP Id:
rs1064796422
gnomAD v3:
16-8774926-G-A
gnomAD v4:
16-8774926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8774926G>A , CM000678.2:g.8774926G>A | GRCh38 |
| NC_000016.9:g.8868783G>A , CM000678.1:g.8868783G>A | GRCh37 |
| NC_000016.8:g.8776284G>A | NCBI36 |
| NG_008432.1:g.105340G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268251.13:c.991G>A MANE Select | ENSP00000268251.8:p.Gly331Arg | |
| ENST00000268251.12:c.991G>A | ENSP00000268251.8:p.Gly331Arg | |
| ENST00000396600.6:c.991G>A | ENSP00000379845.2:p.Gly331Arg | |
| ENST00000425191.6:c.991G>A | ENSP00000411916.2:p.Gly331Arg | |
| ENST00000566590.5:c.*731G>A | ENSP00000455198.1:n.*731G>A | |
| ENST00000567812.5:c.1036G>A | ENSP00000456330.1:p.Gly346Arg | |
| ENST00000569156.5:c.991G>A | ENSP00000454963.1:p.Gly331Arg | |
| NM_000663.4:c.991G>A | NP_000654.2:p.Gly331Arg | |
| NM_001127448.1:c.991G>A | NP_001120920.1:p.Gly331Arg | |
| NM_020686.5:c.991G>A | NP_065737.2:p.Gly331Arg | |
| XM_011522400.1:c.991G>A | XP_011520702.1:p.Gly331Arg | |
| XM_011522401.1:c.991G>A | XP_011520703.1:p.Gly331Arg | |
| XM_011522400.2:c.991G>A | XP_011520702.1:p.Gly331Arg | |
| XM_011522401.2:c.991G>A | XP_011520703.1:p.Gly331Arg | |
| NM_020686.6:c.991G>A MANE Select | NP_065737.2:p.Gly331Arg | |
| NM_001127448.2:c.991G>A | NP_001120920.1:p.Gly331Arg | |
| NM_000663.5:c.991G>A | NP_000654.2:p.Gly331Arg | |
| NM_001386600.1:c.991G>A | NP_001373529.1:p.Gly331Arg | |
| NM_001386601.1:c.991G>A | NP_001373530.1:p.Gly331Arg | |
| NM_001386602.1:c.991G>A | NP_001373531.1:p.Gly331Arg | |
| NM_001386603.1:c.991G>A | NP_001373532.1:p.Gly331Arg | |
| NM_001386604.1:c.991G>A | NP_001373533.1:p.Gly331Arg | |
| NM_001386605.1:c.952G>A | NP_001373534.1:p.Gly318Arg | |
| NM_001386606.1:c.928G>A | NP_001373535.1:p.Gly310Arg | |
| NM_001386607.1:c.928G>A | NP_001373536.1:p.Gly310Arg | |
| NM_001386608.1:c.898G>A | NP_001373537.1:p.Gly300Arg | |
| NM_001386609.1:c.991G>A | NP_001373538.1:p.Gly331Arg | |
| NM_001386610.1:c.856G>A | NP_001373539.1:p.Gly286Arg | |
| NM_001386611.1:c.856G>A | NP_001373540.1:p.Gly286Arg | |
| NM_001386612.1:c.793G>A | NP_001373541.1:p.Gly265Arg | |
| NM_001386613.1:c.793G>A | NP_001373542.1:p.Gly265Arg | |
| NM_001386614.1:c.745G>A | NP_001373543.1:p.Gly249Arg | |
| NM_001386615.1:c.1087G>A | NP_001373544.1:p.Gly363Arg | |
| NM_001386616.1:c.991G>A | NP_001373545.1:p.Gly331Arg |