Linked Data
ClinVar Variation Id:
426035
dbSNP Id:
rs1085307426
gnomAD v2:
12-52314601-G-A
gnomAD v3:
12-51920817-G-A
gnomAD v4:
12-51920817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920817G>A , CM000674.2:g.51920817G>A | GRCh38 |
| NC_000012.11:g.52314601G>A , CM000674.1:g.52314601G>A | GRCh37 |
| NC_000012.10:g.50600868G>A | NCBI36 |
| NG_009549.1:g.18400G>A , LRG_543:g.18400G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1166G>A | ENSP00000446724.2:p.Arg389Gln | |
| ENST00000551576.6:c.1436G>A | ENSP00000455848.2:p.Arg479Gln | |
| ENST00000388922.9:c.1436G>A MANE Select | ENSP00000373574.4:p.Arg479Gln | |
| ENST00000388922.8:c.1436G>A | ENSP00000373574.4:p.Arg479Gln | |
| ENST00000419526.6:c.914G>A | ENSP00000392492.2:p.Arg305Gln | |
| ENST00000550683.5:c.1478G>A | ENSP00000447884.1:p.Arg493Gln | |
| NM_000020.2:c.1436G>A , LRG_543t1:c.1436G>A | NP_000011.2:p.Arg479Gln | |
| NM_001077401.1:c.1436G>A | NP_001070869.1:p.Arg479Gln | |
| XM_005269235.2:c.1436G>A | XP_005269292.1:p.Arg479Gln | |
| XM_011539008.1:c.1166G>A | XP_011537310.1:p.Arg389Gln | |
| XM_024449279.1:c.647G>A | XP_024305047.1:p.Arg216Gln | |
| NM_000020.3:c.1436G>A MANE Select | NP_000011.2:p.Arg479Gln | |
| NM_001077401.2:c.1436G>A | NP_001070869.1:p.Arg479Gln |