Linked Data
ClinVar Variation Id:
259113
dbSNP Id:
rs1538660
ExAC:
9:111641825 G / A
gnomAD v2:
9-111641825-G-A
gnomAD v3:
9-108879545-G-A
gnomAD v4:
9-108879545-G-A
COSMIC:
COSM3763504
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.108879545G>A , CM000671.2:g.108879545G>A | GRCh38 |
| NC_000009.11:g.111641825G>A , CM000671.1:g.111641825G>A | GRCh37 |
| NC_000009.10:g.110681646G>A | NCBI36 |
| NG_008788.1:g.59784C>T , LRG_251:g.59784C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374647.10:c.3473C>T MANE Select | ENSP00000363779.5:p.Pro1158Leu | |
| ENST00000495759.6:c.*2083C>T | ENSP00000433514.2:n.*2083C>T | |
| ENST00000674535.1:c.3473C>T | ENSP00000502142.1:p.Pro1158Leu | |
| ENST00000674704.1:n.6558C>T | ||
| ENST00000674740.1:n.356C>T | ||
| ENST00000674836.1:n.4086C>T | ||
| ENST00000674890.1:c.*708C>T | ENSP00000501870.1:n.*708C>T | |
| ENST00000674938.1:c.3131C>T | ENSP00000502427.1:p.Pro1044Leu | |
| ENST00000674948.1:c.3131C>T | ENSP00000501602.1:p.Pro1044Leu | |
| ENST00000675052.1:c.3473C>T | ENSP00000502664.1:p.Pro1158Leu | |
| ENST00000675062.1:n.519C>T | ||
| ENST00000675078.1:c.3473C>T | ENSP00000501549.1:p.Pro1158Leu | |
| ENST00000675215.1:c.*2697C>T | ENSP00000502558.1:n.*2697C>T | |
| ENST00000675233.1:n.5300C>T | ||
| ENST00000675321.1:c.3460+507C>T | ENSP00000502751.1:n.3460+507C>T | |
| ENST00000675325.1:n.5430C>T | ||
| ENST00000675335.1:c.3504C>T | ENSP00000502182.1:n.3504C>T | |
| ENST00000675400.1:n.5325C>T | ||
| ENST00000675406.1:c.3473C>T | ENSP00000501893.1:p.Pro1158Leu | |
| ENST00000675458.1:c.3566C>T | ENSP00000501754.1:n.3566C>T | |
| ENST00000675507.1:n.5269C>T | ||
| ENST00000675535.1:c.*1100C>T | ENSP00000501667.1:n.*1100C>T | |
| ENST00000675566.1:n.5331C>T | ||
| ENST00000675580.1:n.626C>T | ||
| ENST00000675602.1:n.6521C>T | ||
| ENST00000675647.1:n.4637C>T | ||
| ENST00000675711.1:c.3590C>T | ENSP00000502485.1:n.3590C>T | |
| ENST00000675727.1:c.3473C>T | ENSP00000501722.1:p.Pro1158Leu | |
| ENST00000675748.1:n.5107C>T | ||
| ENST00000675765.1:c.*856C>T | ENSP00000502640.1:n.*856C>T | |
| ENST00000675825.1:c.3515C>T | ENSP00000502632.1:p.Pro1172Leu | |
| ENST00000675877.1:n.5317C>T | ||
| ENST00000675893.1:c.*4542C>T | ENSP00000502001.1:n.*4542C>T | |
| ENST00000675943.1:n.7088C>T | ||
| ENST00000675979.1:c.*2716C>T | ENSP00000502208.1:n.*2716C>T | |
| ENST00000676044.1:c.*1133C>T | ENSP00000502378.1:n.*1133C>T | |
| ENST00000676086.1:n.5258C>T | ||
| ENST00000676121.1:n.5301C>T | ||
| ENST00000676162.1:n.202C>T | ||
| ENST00000676237.1:c.3416C>T | ENSP00000501828.1:p.Pro1139Leu | |
| ENST00000676416.1:c.3173C>T | ENSP00000501660.1:p.Pro1058Leu | |
| ENST00000676424.1:n.5311C>T | ||
| ENST00000676429.1:n.7942C>T | ||
| ENST00000374647.9:c.3473C>T | ENSP00000363779.5:p.Pro1158Leu | |
| ENST00000467959.1:n.353C>T | ||
| ENST00000495759.5:c.613C>T | ||
| ENST00000537196.1:c.2426C>T | ENSP00000439367.1:p.Pro809Leu | |
| NM_003640.3:c.3473C>T , LRG_251t1:c.3473C>T | NP_003631.2:p.Pro1158Leu | |
| XM_005252285.2:c.3131C>T | XP_005252342.1:p.Pro1044Leu | |
| XM_011519136.1:c.3515C>T | XP_011517438.1:p.Pro1172Leu | |
| XM_011519137.1:c.3173C>T | XP_011517439.1:p.Pro1058Leu | |
| NM_001318360.1:c.3131C>T | NP_001305289.1:p.Pro1044Leu | |
| NM_001330749.1:c.2426C>T | NP_001317678.1:p.Pro809Leu | |
| NM_003640.4:c.3473C>T | NP_003631.2:p.Pro1158Leu | |
| XM_011519136.2:c.3515C>T | XP_011517438.1:p.Pro1172Leu | |
| XR_929859.3:n.3862C>T | ||
| NM_003640.5:c.3473C>T MANE Select | NP_003631.2:p.Pro1158Leu | |
| NM_001318360.2:c.3131C>T | NP_001305289.1:p.Pro1044Leu | |
| NM_001330749.2:c.2426C>T | NP_001317678.1:p.Pro809Leu |