Linked Data
ClinVar Variation Id:
397533
ClinVar RCV Id:
RCV000449529
dbSNP Id:
rs1060499665
COSMIC:
COSM1255502
PubMed:
PMID:24759409
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45089792C>T , CM000685.2:g.45089792C>T | GRCh38 |
| NC_000023.10:g.44949037C>T , CM000685.1:g.44949037C>T | GRCh37 |
| NC_000023.9:g.44833981C>T | NCBI36 |
| NG_016260.1:g.221615C>T , LRG_616:g.221615C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682908.1:c.3498C>T | ENSP00000508158.1:n.3498C>T | |
| ENST00000683021.1:c.3517C>T | ENSP00000507416.1:p.Leu1173Phe | |
| ENST00000683425.1:c.*3081C>T | ENSP00000507291.1:n.*3081C>T | |
| ENST00000684352.1:c.3528C>T | ENSP00000508379.1:n.3528C>T | |
| ENST00000377967.9:c.3598C>T | ENSP00000367203.4:p.Leu1200Phe | |
| ENST00000382899.9:c.3619C>T | ENSP00000372355.6:p.Leu1207Phe | |
| ENST00000536777.6:c.3463C>T | ENSP00000437405.3:p.Leu1155Phe | |
| ENST00000543216.6:c.3361C>T | ENSP00000443078.3:p.Leu1121Phe | |
| ENST00000611820.5:c.3754C>T MANE Select | ENSP00000483595.2:p.Leu1252Phe | |
| ENST00000674541.1:c.*2886C>T | ENSP00000501919.1:n.*2886C>T | |
| ENST00000674564.1:c.3517C>T | ENSP00000502150.1:p.Leu1173Phe | |
| ENST00000674586.1:c.3676C>T | ENSP00000502660.1:p.Leu1226Phe | |
| ENST00000674659.1:c.*2836C>T | ENSP00000502255.1:n.*2836C>T | |
| ENST00000674739.1:n.4656C>T | ||
| ENST00000674867.1:c.3460C>T | ENSP00000502060.1:p.Leu1154Phe | |
| ENST00000675157.1:n.3205C>T | ||
| ENST00000675182.1:n.3638C>T | ||
| ENST00000675514.1:c.*149C>T | ENSP00000502759.1:n.*149C>T | |
| ENST00000675525.1:n.5720C>T | ||
| ENST00000675546.1:n.10378C>T | ||
| ENST00000675577.1:c.3496C>T | ENSP00000501855.1:p.Leu1166Phe | |
| ENST00000675816.1:n.3774C>T | ||
| ENST00000676062.1:c.3619C>T | ENSP00000502311.1:p.Leu1207Phe | |
| ENST00000676085.1:c.*2784C>T | ENSP00000501752.1:n.*2784C>T | |
| ENST00000676133.1:c.*3651C>T | ENSP00000502586.1:n.*3651C>T | |
| ENST00000676343.1:c.3619C>T | ENSP00000501761.1:p.Leu1207Phe | |
| ENST00000676389.1:n.4041C>T | ||
| ENST00000377967.8:c.3598C>T | ENSP00000367203.4:p.Leu1200Phe | |
| ENST00000382899.8:c.3547C>T | ENSP00000372355.5:p.Leu1183Phe | |
| ENST00000414389.5:c.2390C>T | ||
| ENST00000433797.5:c.2525C>T | ||
| ENST00000536777.5:c.3391C>T | ENSP00000437405.2:p.Leu1131Phe | |
| ENST00000543216.5:c.3445C>T | ENSP00000443078.2:p.Leu1149Phe | |
| ENST00000611820.4:c.3682C>T | ENSP00000483595.1:p.Leu1228Phe | |
| ENST00000621147.4:c.2595+11299C>T | ENSP00000478793.1:n.2595+11299C>T | |
| NM_001291415.1:c.3754C>T , LRG_616t1:c.3754C>T | NP_001278344.1:p.Leu1252Phe | |
| NM_001291416.1:c.3619C>T | NP_001278345.1:p.Leu1207Phe | |
| NM_001291417.1:c.3463C>T | NP_001278346.1:p.Leu1155Phe | |
| NM_001291418.1:c.3361C>T | NP_001278347.1:p.Leu1121Phe | |
| NM_001291421.1:c.2710C>T | NP_001278350.1:p.Leu904Phe | |
| NM_021140.3:c.3598C>T | NP_066963.2:p.Leu1200Phe | |
| NR_111960.1:n.3894C>T | ||
| XM_005272656.3:c.3652C>T | XP_005272713.1:p.Leu1218Phe | |
| XM_005272659.3:c.3496C>T | XP_005272716.1:p.Leu1166Phe | |
| XM_011543957.1:c.3811C>T | XP_011542259.1:p.Leu1271Phe | |
| XM_011543958.1:c.3754C>T | XP_011542260.1:p.Leu1252Phe | |
| XM_011543959.1:c.3709C>T | XP_011542261.1:p.Leu1237Phe | |
| XM_011543960.1:c.3811C>T | XP_011542262.1:p.Leu1271Phe | |
| XM_011543961.1:c.3676C>T | XP_011542263.1:p.Leu1226Phe | |
| XM_011543962.1:c.3655C>T | XP_011542264.1:p.Leu1219Phe | |
| XM_011543963.1:c.3619C>T | XP_011542265.1:p.Leu1207Phe | |
| XM_011543964.1:c.3598C>T | XP_011542266.1:p.Leu1200Phe | |
| XM_011543965.1:c.3574C>T | XP_011542267.1:p.Leu1192Phe | |
| XM_011543966.1:c.3553C>T | XP_011542268.1:p.Leu1185Phe | |
| XM_011543967.1:c.3655C>T | XP_011542269.1:p.Leu1219Phe | |
| XM_011543968.1:c.3520C>T | XP_011542270.1:p.Leu1174Phe | |
| XM_011543969.1:c.3517C>T | XP_011542271.1:p.Leu1173Phe | |
| XM_011543970.1:c.3496C>T | XP_011542272.1:p.Leu1166Phe | |
| XM_011543971.1:c.3574C>T | XP_011542273.1:p.Leu1192Phe | |
| XM_011543972.1:c.3463C>T | XP_011542274.1:p.Leu1155Phe | |
| XM_011543973.1:c.3520C>T | XP_011542275.1:p.Leu1174Phe | |
| XM_011543974.1:c.3598C>T | XP_011542276.1:p.Leu1200Phe | |
| XM_011543975.1:c.3001C>T | XP_011542277.1:p.Leu1001Phe | |
| XM_011543976.1:c.*39C>T | XP_011542278.1:n.*39C>T | |
| XR_949018.1:n.4188C>T | ||
| XM_005272656.5:c.3652C>T | XP_005272713.1:p.Leu1218Phe | |
| XM_005272659.5:c.3496C>T | XP_005272716.1:p.Leu1166Phe | |
| XM_011543958.3:c.3754C>T | XP_011542260.1:p.Leu1252Phe | |
| XM_011543963.3:c.3619C>T | XP_011542265.1:p.Leu1207Phe | |
| XM_011543964.3:c.3598C>T | XP_011542266.1:p.Leu1200Phe | |
| XM_011543969.3:c.3517C>T | XP_011542271.1:p.Leu1173Phe | |
| XM_011543970.3:c.3496C>T | XP_011542272.1:p.Leu1166Phe | |
| XM_011543972.3:c.3463C>T | XP_011542274.1:p.Leu1155Phe | |
| XM_011543974.2:c.3598C>T | XP_011542276.1:p.Leu1200Phe | |
| XM_011543975.2:c.3001C>T | XP_011542277.1:p.Leu1001Phe | |
| XM_017029783.2:c.3517C>T | XP_016885272.1:p.Leu1173Phe | |
| XM_017029784.1:c.2866C>T | XP_016885273.1:p.Leu956Phe | |
| XM_017029785.1:c.2608C>T | XP_016885274.1:p.Leu870Phe | |
| XM_024452438.1:c.3652C>T | XP_024308206.1:p.Leu1218Phe | |
| XM_024452439.1:c.3229C>T | XP_024308207.1:p.Leu1077Phe | |
| XR_002958804.1:n.4124C>T | ||
| NM_001291415.2:c.3754C>T MANE Select | NP_001278344.1:p.Leu1252Phe | |
| NM_001291416.2:c.3619C>T | NP_001278345.1:p.Leu1207Phe | |
| NM_001291417.2:c.3463C>T | NP_001278346.1:p.Leu1155Phe | |
| NM_001291418.2:c.3361C>T | NP_001278347.1:p.Leu1121Phe | |
| NM_001291421.2:c.2710C>T | NP_001278350.1:p.Leu904Phe | |
| NM_021140.4:c.3598C>T | NP_066963.2:p.Leu1200Phe | |
| NR_111960.2:n.3881C>T |