Linked Data
ClinVar Variation Id:
404109
dbSNP Id:
rs760147253
ExAC:
14:65543252 G / A
gnomAD v2:
14-65543252-G-A
gnomAD v3:
14-65076534-G-A
gnomAD v4:
14-65076534-G-A
COSMIC:
COSM4577970
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.65076534G>A , CM000676.2:g.65076534G>A | GRCh38 |
| NC_000014.8:g.65543252G>A , CM000676.1:g.65543252G>A | GRCh37 |
| NC_000014.7:g.64613005G>A | NCBI36 |
| NG_029830.1:g.30976C>T , LRG_530:g.30976C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556892.6:c.206C>T | ENSP00000452206.2:p.Ser69Leu | |
| ENST00000556979.6:c.*878C>T | ENSP00000452378.1:n.*878C>T | |
| ENST00000358664.9:c.425C>T MANE Select | ENSP00000351490.4:p.Ser142Leu | |
| ENST00000651648.1:c.145-6165C>T | ENSP00000498863.1:n.145-6165C>T | |
| ENST00000284165.10:c.*1269C>T | ENSP00000284165.6:n.*1269C>T | |
| ENST00000341653.6:c.171+17174C>T | ENSP00000342482.2:n.171+17174C>T | |
| ENST00000358402.8:c.398C>T | ENSP00000351175.4:p.Ser133Leu | |
| ENST00000358664.8:c.425C>T | ENSP00000351490.4:p.Ser142Leu | |
| ENST00000394606.6:c.*198C>T | ENSP00000378104.2:n.*198C>T | |
| ENST00000553928.5:c.*214C>T | ENSP00000451907.1:n.*214C>T | |
| ENST00000555419.5:c.317C>T | ENSP00000452405.1:p.Ser106Leu | |
| ENST00000555932.5:c.166C>T | ENSP00000450763.1:p.Arg56Trp | |
| ENST00000557277.5:c.236C>T | ENSP00000450955.1:p.Ser79Leu | |
| ENST00000618858.4:c.*214C>T | ENSP00000480127.1:n.*214C>T | |
| NM_001271069.1:c.144+17174C>T | NP_001257998.1:n.144+17174C>T | |
| NM_002382.4:c.425C>T | NP_002373.3:p.Ser142Leu | |
| NM_145112.2:c.398C>T | NP_660087.1:p.Ser133Leu | |
| NM_145113.2:c.*214C>T | NP_660088.1:n.*214C>T | |
| NM_197957.3:c.171+17174C>T | NP_932061.1:n.171+17174C>T | |
| NR_073137.1:n.549C>T | ||
| XR_429315.2:n.712C>T | ||
| NM_001320415.1:c.236C>T | NP_001307344.1:p.Ser79Leu | |
| XM_017021312.2:c.236C>T | XP_016876801.1:p.Ser79Leu | |
| XM_017021313.1:c.236C>T | XP_016876802.1:p.Ser79Leu | |
| XR_001750326.2:n.770C>T | ||
| XR_001750327.2:n.689C>T | ||
| XR_002957553.1:n.1203C>T | ||
| XR_943450.3:n.793C>T | ||
| XR_943451.3:n.809C>T | ||
| XR_943452.3:n.754C>T | ||
| NM_001320415.2:c.236C>T | NP_001307344.1:p.Ser79Leu | |
| NM_002382.5:c.425C>T MANE Select | NP_002373.3:p.Ser142Leu | |
| NM_145112.3:c.398C>T | NP_660087.1:p.Ser133Leu | |
| NM_145113.3:c.*214C>T | NP_660088.1:n.*214C>T | |
| NM_001271069.2:c.144+17174C>T | NP_001257998.1:n.144+17174C>T | |
| NM_197957.4:c.171+17174C>T | NP_932061.1:n.171+17174C>T |