Linked Data
ClinVar Variation Id:
348590
dbSNP Id:
rs199818232
ExAC:
4:2833666 C / T
gnomAD v2:
4-2833666-C-T
gnomAD v3:
4-2831939-C-T
gnomAD v4:
4-2831939-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2831939C>T , CM000666.2:g.2831939C>T | GRCh38 |
| NC_000004.11:g.2833666C>T , CM000666.1:g.2833666C>T | GRCh37 |
| NC_000004.10:g.2803464C>T | NCBI36 |
| NG_011609.1:g.43917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.1451C>T | ENSP00000403231.3:p.Ser484Leu | |
| ENST00000503393.8:c.1367C>T MANE Select | ENSP00000422168.3:p.Ser456Leu | |
| ENST00000511747.6:c.1538C>T | ENSP00000424846.2:p.Ser513Leu | |
| ENST00000356331.9:c.1367C>T | ENSP00000348685.5:p.Ser456Leu | |
| ENST00000435136.6:c.1367C>T | ENSP00000403231.2:p.Ser456Leu | |
| ENST00000442312.6:c.1451C>T | ENSP00000388152.2:p.Ser484Leu | |
| ENST00000452765.6:c.1367C>T | ENSP00000409746.2:p.Ser456Leu | |
| ENST00000503393.6:c.1538C>T | ENSP00000422168.2:p.Ser513Leu | |
| ENST00000504450.1:n.664C>T | ||
| ENST00000510204.5:n.1844C>T | ||
| ENST00000511747.5:c.1367C>T | ENSP00000424846.1:p.Ser456Leu | |
| ENST00000513069.1:c.460+260C>T | ||
| ENST00000515737.5:c.*1252C>T | ENSP00000422605.1:n.*1252C>T | |
| ENST00000515802.5:n.1473C>T | ||
| NM_001122681.1:c.1367C>T | NP_001116153.1:p.Ser456Leu | |
| NM_001145855.1:c.1451C>T | NP_001139327.1:p.Ser484Leu | |
| NM_001145856.1:c.1538C>T | NP_001139328.1:p.Ser513Leu | |
| NM_003023.4:c.1367C>T | NP_003014.3:p.Ser456Leu | |
| XM_005247998.3:c.1376C>T | XP_005248055.1:p.Ser459Leu | |
| XM_005247999.3:c.1367C>T | XP_005248056.1:p.Ser456Leu | |
| XM_011513547.1:c.1538C>T | XP_011511849.1:p.Ser513Leu | |
| XM_011513548.1:c.1350+260C>T | XP_011511850.1:n.1350+260C>T | |
| XM_011513549.1:c.1367C>T | XP_011511851.1:p.Ser456Leu | |
| XM_011513550.1:c.1367C>T | XP_011511852.1:p.Ser456Leu | |
| XM_011513551.1:c.1350+260C>T | XP_011511853.1:n.1350+260C>T | |
| XM_011513552.1:c.1196C>T | XP_011511854.1:p.Ser399Leu | |
| XM_011513553.1:c.1004C>T | XP_011511855.1:p.Ser335Leu | |
| XM_011513554.1:c.695+260C>T | XP_011511856.1:n.695+260C>T | |
| XM_011513555.1:c.712C>T | XP_011511857.1:p.Arg238Trp | |
| XM_011513556.1:c.712C>T | XP_011511858.1:p.Arg238Trp | |
| XR_924990.1:n.1371C>T | ||
| NM_001122681.2:c.1367C>T MANE Select | NP_001116153.1:p.Ser456Leu | |
| NM_001145855.2:c.1451C>T | NP_001139327.1:p.Ser484Leu | |
| NM_001145856.2:c.1538C>T | NP_001139328.1:p.Ser513Leu |