Linked Data
ClinVar Variation Id:
8243
dbSNP Id:
rs121909284
ExAC:
12:52310003 G / A
gnomAD v2:
12-52310003-G-A
gnomAD v4:
12-51916219-G-A
ERepo:
CA119395/MONDO:0010880/135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916219G>A , CM000674.2:g.51916219G>A | GRCh38 |
| NC_000012.11:g.52310003G>A , CM000674.1:g.52310003G>A | GRCh37 |
| NC_000012.10:g.50596270G>A | NCBI36 |
| NG_009549.1:g.13802G>A , LRG_543:g.13802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.962G>A | ENSP00000446724.2:p.Arg321Gln | |
| ENST00000551576.6:c.1232G>A | ENSP00000455848.2:p.Arg411Gln | |
| ENST00000552678.2:c.1232G>A | ENSP00000457394.2:p.Arg411Gln | |
| ENST00000388922.9:c.1232G>A MANE Select | ENSP00000373574.4:p.Arg411Gln | |
| ENST00000388922.8:c.1232G>A | ENSP00000373574.4:p.Arg411Gln | |
| ENST00000419526.6:c.710G>A | ENSP00000392492.2:p.Arg237Gln | |
| ENST00000547632.1:n.507G>A | ||
| ENST00000550683.5:c.1274G>A | ENSP00000447884.1:p.Arg425Gln | |
| ENST00000552678.1:c.237G>A | ||
| NM_000020.2:c.1232G>A , LRG_543t1:c.1232G>A | NP_000011.2:p.Arg411Gln | |
| NM_001077401.1:c.1232G>A | NP_001070869.1:p.Arg411Gln | |
| XM_005269235.2:c.1232G>A | XP_005269292.1:p.Arg411Gln | |
| XM_011539008.1:c.962G>A | XP_011537310.1:p.Arg321Gln | |
| XM_024449279.1:c.443G>A | XP_024305047.1:p.Arg148Gln | |
| NM_000020.3:c.1232G>A MANE Select | NP_000011.2:p.Arg411Gln | |
| NM_001077401.2:c.1232G>A | NP_001070869.1:p.Arg411Gln |