Linked Data
ClinVar Variation Id:
501089
dbSNP Id:
rs140365206
ExAC:
14:77894714 G / A
gnomAD v2:
14-77894714-G-A
gnomAD v3:
14-77428371-G-A
gnomAD v4:
14-77428371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77428371G>A , CM000676.2:g.77428371G>A | GRCh38 |
| NC_000014.8:g.77894714G>A , CM000676.1:g.77894714G>A | GRCh37 |
| NC_000014.7:g.76964467G>A | NCBI36 |
| NG_023421.1:g.34270C>T | |
| NG_023421.2:g.34270C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557658.6:c.1460C>T MANE Select | ENSP00000452191.1:p.Ser487Leu | |
| ENST00000327028.8:c.1313C>T | ENSP00000313098.5:p.Ser438Leu | |
| ENST00000343765.6:c.1460C>T | ENSP00000339122.2:p.Ser487Leu | |
| ENST00000448935.6:c.1313C>T | ENSP00000404815.2:p.Ser438Leu | |
| ENST00000553888.5:c.1460C>T | ENSP00000452181.1:p.Ser487Leu | |
| ENST00000556412.4:c.1538C>T | ENSP00000451857.1:p.Ser513Leu | |
| ENST00000557658.5:c.1460C>T | ENSP00000452191.1:p.Ser487Leu | |
| NM_001193314.1:c.1460C>T | NP_001180243.1:p.Ser487Leu | |
| NM_001193315.1:c.1460C>T | NP_001180244.1:p.Ser487Leu | |
| NM_001193316.1:c.1313C>T | NP_001180245.1:p.Ser438Leu | |
| NM_001193317.1:c.1460C>T | NP_001180246.1:p.Ser487Leu | |
| NM_022067.3:c.1460C>T | NP_071350.2:p.Ser487Leu | |
| XM_011537066.1:c.1367C>T | XP_011535368.1:p.Ser456Leu | |
| XM_011537066.2:c.1367C>T | XP_011535368.1:p.Ser456Leu | |
| XM_024449688.1:c.1367C>T | XP_024305456.1:p.Ser456Leu | |
| XR_001750501.2:n.1675C>T | ||
| NM_001193314.2:c.1460C>T | NP_001180243.1:p.Ser487Leu | |
| NM_001193316.2:c.1313C>T | NP_001180245.1:p.Ser438Leu | |
| NM_001193317.2:c.1460C>T | NP_001180246.1:p.Ser487Leu | |
| NM_022067.4:c.1460C>T | NP_071350.2:p.Ser487Leu | |
| NM_001193315.2:c.1460C>T MANE Select | NP_001180244.1:p.Ser487Leu | |
| NM_001400324.1:c.1313C>T | NP_001387253.1:p.Ser438Leu | |
| NM_001400325.1:c.1313C>T | NP_001387254.1:p.Ser438Leu | |
| NM_001400326.1:c.1460C>T | NP_001387255.1:p.Ser487Leu | |
| NM_001400327.1:c.1427C>T | NP_001387256.1:p.Ser476Leu | |
| NM_001400330.1:c.1373C>T | NP_001387259.1:p.Ser458Leu | |
| NM_001400331.1:c.1373C>T | NP_001387260.1:p.Ser458Leu | |
| NM_001400332.1:c.1373C>T | NP_001387261.1:p.Ser458Leu | |
| NM_001400333.1:c.1367C>T | NP_001387262.1:p.Ser456Leu | |
| NM_001400334.1:c.1367C>T | NP_001387263.1:p.Ser456Leu | |
| NM_001400335.1:c.1356+635C>T | NP_001387264.1:n.1356+635C>T | |
| NM_001400336.1:c.1325C>T | NP_001387265.1:p.Ser442Leu | |
| NM_001400337.1:c.1220C>T | NP_001387266.1:p.Ser407Leu | |
| NM_001400338.1:c.1181C>T | NP_001387267.1:p.Ser394Leu | |
| NM_001400339.1:c.1175C>T | NP_001387268.1:p.Ser392Leu | |
| NR_174476.1:n.1660C>T |