Linked Data
ClinVar Variation Id:
2740966
ClinVar RCV Id:
RCV003582671
dbSNP Id:
rs1186385180
gnomAD v2:
1-205027435-C-T
gnomAD v3:
1-205058307-C-T
gnomAD v4:
1-205058307-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.205058307C>T , CM000663.2:g.205058307C>T | GRCh38 |
| NC_000001.10:g.205027435C>T , CM000663.1:g.205027435C>T | GRCh37 |
| NC_000001.9:g.203294058C>T | NCBI36 |
| NG_033845.1:g.20096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331830.7:c.342C>T MANE Select | ENSP00000330633.4:p.Ser114= | |
| ENST00000532366.2:c.*929C>T | ENSP00000491665.1:n.*929C>T | |
| ENST00000636809.2:n.630C>T | ||
| ENST00000638378.1:c.342C>T | ENSP00000492617.1:p.Ser114= | |
| ENST00000639302.1:c.342C>T | ENSP00000491671.1:p.Ser114= | |
| ENST00000639971.1:c.342C>T | ENSP00000491959.1:p.Ser114= | |
| ENST00000640326.1:c.342C>T | ENSP00000492495.1:p.Ser114= | |
| ENST00000640352.1:c.*929C>T | ENSP00000491080.1:n.*929C>T | |
| ENST00000640428.1:c.342C>T | ENSP00000491474.1:p.Ser114= | |
| ENST00000331830.4:c.342C>T | ENSP00000330633.4:p.Ser114= | |
| ENST00000532366.1:n.455C>T | ||
| NM_005076.3:c.342C>T | NP_005067.1:p.Ser114= | |
| XM_011509925.1:c.327C>T | XP_011508227.1:p.Ser109= | |
| NM_001346083.1:c.342C>T | NP_001333012.1:p.Ser114= | |
| NM_005076.4:c.342C>T | NP_005067.1:p.Ser114= | |
| NR_144350.1:n.699C>T | ||
| XM_017002198.1:c.342C>T | XP_016857687.1:p.Ser114= | |
| XM_017002199.2:c.327C>T | XP_016857688.1:p.Ser109= | |
| XM_024449386.1:c.381C>T | XP_024305154.1:p.Ser127= | |
| XM_024449387.1:c.-197C>T | XP_024305155.1:n.-197C>T | |
| XM_024449388.1:c.-197C>T | XP_024305156.1:n.-197C>T | |
| XM_024449389.1:c.381C>T | XP_024305157.1:p.Ser127= | |
| NM_005076.5:c.342C>T MANE Select | NP_005067.1:p.Ser114= | |
| NM_001346083.2:c.342C>T | NP_001333012.1:p.Ser114= | |
| NR_144350.2:n.611C>T |