Linked Data
ClinVar Variation Id:
1798782
ClinVar RCV Id:
RCV002435753
dbSNP Id:
rs1276934525
gnomAD v2:
12-52307121-C-G
gnomAD v3:
12-51913337-C-G
gnomAD v4:
12-51913337-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913337C>G , CM000674.2:g.51913337C>G | GRCh38 |
| NC_000012.11:g.52307121C>G , CM000674.1:g.52307121C>G | GRCh37 |
| NC_000012.10:g.50593388C>G | NCBI36 |
| NG_009549.1:g.10920C>G , LRG_543:g.10920C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.342C>G | ENSP00000446724.2:p.Ser114= | |
| ENST00000551576.6:c.300C>G | ENSP00000455848.2:p.Ser100= | |
| ENST00000552678.2:c.300C>G | ENSP00000457394.2:p.Ser100= | |
| ENST00000388922.9:c.300C>G MANE Select | ENSP00000373574.4:p.Ser100= | |
| ENST00000388922.8:c.300C>G | ENSP00000373574.4:p.Ser100= | |
| ENST00000419526.6:c.103+802C>G | ENSP00000392492.2:n.103+802C>G | |
| ENST00000547400.5:c.342C>G | ENSP00000446724.1:p.Ser114= | |
| ENST00000550683.5:c.342C>G | ENSP00000447884.1:p.Ser114= | |
| NM_000020.2:c.300C>G , LRG_543t1:c.300C>G | NP_000011.2:p.Ser100= | |
| NM_001077401.1:c.300C>G | NP_001070869.1:p.Ser100= | |
| XM_005269235.2:c.300C>G | XP_005269292.1:p.Ser100= | |
| XM_011539008.1:c.342C>G | XP_011537310.1:p.Ser114= | |
| XM_024449279.1:c.-390C>G | XP_024305047.1:n.-390C>G | |
| NM_000020.3:c.300C>G MANE Select | NP_000011.2:p.Ser100= | |
| NM_001077401.2:c.300C>G | NP_001070869.1:p.Ser100= |