Linked Data
ClinVar Variation Id:
212796
ClinVar RCV Id:
RCV000198604
RCV000414952
RCV000502469
RCV000488871
RCV000506673
RCV001003757
RCV002390510
dbSNP Id:
rs863223408
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920832G>A , CM000674.2:g.51920832G>A | GRCh38 |
| NC_000012.11:g.52314616G>A , CM000674.1:g.52314616G>A | GRCh37 |
| NC_000012.10:g.50600883G>A | NCBI36 |
| NG_009549.1:g.18415G>A , LRG_543:g.18415G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1181G>A | ENSP00000446724.2:p.Arg394Gln | |
| ENST00000551576.6:c.1451G>A | ENSP00000455848.2:p.Arg484Gln | |
| ENST00000388922.9:c.1451G>A MANE Select | ENSP00000373574.4:p.Arg484Gln | |
| ENST00000388922.8:c.1451G>A | ENSP00000373574.4:p.Arg484Gln | |
| ENST00000419526.6:c.929G>A | ENSP00000392492.2:p.Arg310Gln | |
| ENST00000550683.5:c.1493G>A | ENSP00000447884.1:p.Arg498Gln | |
| NM_000020.2:c.1451G>A , LRG_543t1:c.1451G>A | NP_000011.2:p.Arg484Gln | |
| NM_001077401.1:c.1451G>A | NP_001070869.1:p.Arg484Gln | |
| XM_005269235.2:c.1451G>A | XP_005269292.1:p.Arg484Gln | |
| XM_011539008.1:c.1181G>A | XP_011537310.1:p.Arg394Gln | |
| XM_024449279.1:c.662G>A | XP_024305047.1:p.Arg221Gln | |
| NM_000020.3:c.1451G>A MANE Select | NP_000011.2:p.Arg484Gln | |
| NM_001077401.2:c.1451G>A | NP_001070869.1:p.Arg484Gln |