Linked Data
ClinVar Variation Id:
1095737
dbSNP Id:
rs745390732
ExAC:
12:52314674 A / G
gnomAD v2:
12-52314674-A-G
gnomAD v3:
12-51920890-A-G
gnomAD v4:
12-51920890-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920890A>G , CM000674.2:g.51920890A>G | GRCh38 |
| NC_000012.11:g.52314674A>G , CM000674.1:g.52314674A>G | GRCh37 |
| NC_000012.10:g.50600941A>G | NCBI36 |
| NG_009549.1:g.18473A>G , LRG_543:g.18473A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1239A>G | ENSP00000446724.2:p.Gln413= | |
| ENST00000551576.6:c.1509A>G | ENSP00000455848.2:p.Gln503= | |
| ENST00000388922.9:c.1509A>G MANE Select | ENSP00000373574.4:p.Gln503= | |
| ENST00000388922.8:c.1509A>G | ENSP00000373574.4:p.Gln503= | |
| ENST00000419526.6:c.987A>G | ENSP00000392492.2:p.Gln329= | |
| ENST00000550683.5:c.1551A>G | ENSP00000447884.1:p.Gln517= | |
| NM_000020.2:c.1509A>G , LRG_543t1:c.1509A>G | NP_000011.2:p.Gln503= | |
| NM_001077401.1:c.1509A>G | NP_001070869.1:p.Gln503= | |
| XM_005269235.2:c.1509A>G | XP_005269292.1:p.Gln503= | |
| XM_011539008.1:c.1239A>G | XP_011537310.1:p.Gln413= | |
| XM_024449279.1:c.720A>G | XP_024305047.1:p.Gln240= | |
| NM_000020.3:c.1509A>G MANE Select | NP_000011.2:p.Gln503= | |
| NM_001077401.2:c.1509A>G | NP_001070869.1:p.Gln503= |