Linked Data
ClinVar Variation Id:
540501
dbSNP Id:
rs138943371
ExAC:
14:103371923 C / T
gnomAD v2:
14-103371923-C-T
gnomAD v3:
14-102905586-C-T
gnomAD v4:
14-102905586-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102905586C>T , CM000676.2:g.102905586C>T | GRCh38 |
| NC_000014.8:g.103371923C>T , CM000676.1:g.103371923C>T | GRCh37 |
| NC_000014.7:g.102441676C>T | NCBI36 |
| NG_027973.1:g.133108C>T , LRG_229:g.133108C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351691.10:c.1434C>T | ENSP00000332468.5:p.Ser478= | |
| ENST00000699893.1:c.1434C>T | ENSP00000514677.1:p.Ser478= | |
| ENST00000699894.1:c.1509C>T | ENSP00000514678.1:p.Ser503= | |
| ENST00000699895.1:n.1558C>T | ||
| ENST00000699896.1:n.1066+2157C>T | ||
| ENST00000699897.1:n.3586C>T | ||
| ENST00000392745.8:c.1509C>T MANE Select | ENSP00000376500.3:p.Ser503= | |
| ENST00000347662.8:c.1434C>T | ENSP00000328003.4:p.Ser478= | |
| ENST00000351691.9:c.1434C>T | ENSP00000332468.5:p.Ser478= | |
| ENST00000392745.6:c.1509C>T | ENSP00000376500.2:p.Ser503= | |
| ENST00000539721.5:c.1260C>T | ENSP00000445998.1:p.Ser420= | |
| ENST00000560371.5:c.1509C>T | ENSP00000454207.1:p.Ser503= | |
| NM_001199427.1:c.1260C>T | NP_001186356.1:p.Ser420= | |
| NM_003300.3:c.1509C>T | NP_003291.2:p.Ser503= | |
| NM_145725.2:c.1509C>T , LRG_229t1:c.1509C>T | NP_663777.1:p.Ser503= | |
| NM_145726.2:c.1434C>T | NP_663778.1:p.Ser478= | |
| XM_011537116.1:c.1353C>T | XP_011535418.1:p.Ser451= | |
| XM_011537117.1:c.1341C>T | XP_011535419.1:p.Ser447= | |
| XM_011537118.1:c.1260C>T | XP_011535420.1:p.Ser420= | |
| XM_011537116.3:c.1353C>T | XP_011535418.1:p.Ser451= | |
| XM_011537117.3:c.1341C>T | XP_011535419.1:p.Ser447= | |
| XM_011537118.3:c.1260C>T | XP_011535420.1:p.Ser420= | |
| XM_017021617.1:c.1509C>T | XP_016877106.1:p.Ser503= | |
| XM_017021618.1:c.1509C>T | XP_016877107.1:p.Ser503= | |
| XM_017021619.1:c.1434C>T | XP_016877108.1:p.Ser478= | |
| NM_001199427.2:c.1260C>T | NP_001186356.1:p.Ser420= | |
| NM_003300.4:c.1509C>T | NP_003291.2:p.Ser503= | |
| NM_145725.3:c.1509C>T MANE Select | NP_663777.1:p.Ser503= | |
| NM_001385142.1:c.1368C>T | NP_001372071.1:p.Ser456= | |
| NM_001385143.1:c.1428C>T | NP_001372072.1:p.Ser476= | |
| NM_145726.3:c.1434C>T | NP_663778.1:p.Ser478= |