Linked Data
ClinVar Variation Id:
995685
ClinVar RCV Id:
RCV001289853
dbSNP Id:
rs1038380207
gnomAD v3:
12-51920342-C-T
gnomAD v4:
12-51920342-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920342C>T , CM000674.2:g.51920342C>T | GRCh38 |
| NC_000012.11:g.52314126C>T , CM000674.1:g.52314126C>T | GRCh37 |
| NC_000012.10:g.50600393C>T | NCBI36 |
| NG_009549.1:g.17925C>T , LRG_543:g.17925C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1108-417C>T | ENSP00000446724.2:n.1108-417C>T | |
| ENST00000551576.6:c.1378-417C>T | ENSP00000455848.2:n.1378-417C>T | |
| ENST00000388922.9:c.1378-417C>T MANE Select | ENSP00000373574.4:n.1378-417C>T | |
| ENST00000388922.8:c.1378-417C>T | ENSP00000373574.4:n.1378-417C>T | |
| ENST00000419526.6:c.856-417C>T | ENSP00000392492.2:n.856-417C>T | |
| ENST00000550683.5:c.1420-417C>T | ENSP00000447884.1:n.1420-417C>T | |
| NM_000020.2:c.1378-417C>T , LRG_543t1:c.1378-417C>T | NP_000011.2:n.1378-417C>T | |
| NM_001077401.1:c.1378-417C>T | NP_001070869.1:n.1378-417C>T | |
| XM_005269235.2:c.1378-417C>T | XP_005269292.1:n.1378-417C>T | |
| XM_011539008.1:c.1108-417C>T | XP_011537310.1:n.1108-417C>T | |
| XM_024449279.1:c.589-417C>T | XP_024305047.1:n.589-417C>T | |
| NM_000020.3:c.1378-417C>T MANE Select | NP_000011.2:n.1378-417C>T | |
| NM_001077401.2:c.1378-417C>T | NP_001070869.1:n.1378-417C>T |