Linked Data
ClinVar Variation Id:
1485
ClinVar RCV Id:
RCV003764513
dbSNP Id:
rs118204119
PubMed:
PMID:14970743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119089248T>C , CM000673.2:g.119089248T>C | GRCh38 |
| NC_000011.9:g.118959958T>C , CM000673.1:g.118959958T>C | GRCh37 |
| NC_000011.8:g.118465168T>C | NCBI36 |
| NG_008093.1:g.9372T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000686218.1:c.77T>C | ENSP00000509288.1:p.Leu26Pro | |
| ENST00000686690.1:n.863T>C | ||
| ENST00000691144.1:n.1983T>C | ||
| ENST00000691249.1:n.826T>C | ||
| ENST00000442944.7:c.224T>C | ENSP00000392041.3:p.Leu75Pro | |
| ENST00000534956.2:n.191T>C | ||
| ENST00000536813.6:c.191T>C | ENSP00000438726.2:p.Leu64Pro | |
| ENST00000546302.6:c.242T>C | ENSP00000445599.1:p.Leu81Pro | |
| ENST00000640813.1:c.191T>C | ENSP00000491061.1:p.Leu64Pro | |
| ENST00000648026.1:c.236T>C | ENSP00000498044.1:p.Leu79Pro | |
| ENST00000648374.1:c.191T>C | ENSP00000497255.1:p.Leu64Pro | |
| ENST00000648488.1:c.191T>C | ENSP00000498079.1:p.Leu64Pro | |
| ENST00000649823.1:n.459T>C | ||
| ENST00000649868.1:c.97T>C | ENSP00000497548.1:p.Leu33= | |
| ENST00000650101.1:c.173T>C | ENSP00000496970.1:p.Leu58Pro | |
| ENST00000650307.1:n.1068T>C | ||
| ENST00000652429.1:c.242T>C MANE Select | ENSP00000498786.1:p.Leu81Pro | |
| ENST00000278715.7:c.242T>C | ENSP00000278715.3:p.Leu81Pro | |
| ENST00000392841.1:c.191T>C | ENSP00000376584.1:p.Leu64Pro | |
| ENST00000442944.6:c.191T>C | ENSP00000392041.2:p.Leu64Pro | |
| ENST00000534956.1:n.158T>C | ||
| ENST00000535253.5:c.191T>C | ENSP00000442079.1:p.Leu64Pro | |
| ENST00000535793.5:c.*137T>C | ENSP00000439904.1:n.*137T>C | |
| ENST00000536185.5:n.360T>C | ||
| ENST00000536813.5:c.224T>C | ENSP00000438726.1:p.Leu75Pro | |
| ENST00000537841.5:c.191T>C | ENSP00000444730.1:p.Leu64Pro | |
| ENST00000539986.5:c.191T>C | ENSP00000440092.1:p.Leu64Pro | |
| ENST00000542044.5:n.687T>C | ||
| ENST00000542345.5:n.380T>C | ||
| ENST00000542729.5:c.191T>C | ENSP00000443058.1:p.Leu64Pro | |
| ENST00000542822.5:c.*178T>C | ENSP00000444817.1:n.*178T>C | |
| ENST00000543090.5:c.188T>C | ENSP00000445429.1:p.Leu63Pro | |
| ENST00000543543.5:n.477T>C | ||
| ENST00000543821.5:n.388T>C | ||
| ENST00000544360.5:n.210T>C | ||
| ENST00000544387.5:c.242T>C | ENSP00000438424.1:p.Leu81Pro | |
| ENST00000545621.5:c.*137T>C | ENSP00000444849.1:n.*137T>C | |
| ENST00000546226.5:n.301T>C | ||
| ENST00000546302.5:c.242T>C | ENSP00000445599.1:p.Leu81Pro | |
| NM_000190.3:c.242T>C | NP_000181.2:p.Leu81Pro | |
| NM_001024382.1:c.191T>C | NP_001019553.1:p.Leu64Pro | |
| NM_001258208.1:c.242T>C | NP_001245137.1:p.Leu81Pro | |
| NM_001258209.1:c.191T>C | NP_001245138.1:p.Leu64Pro | |
| XM_005271531.1:c.191T>C | XP_005271588.1:p.Leu64Pro | |
| XM_005271532.1:c.191T>C | XP_005271589.1:p.Leu64Pro | |
| XM_005271533.2:c.188T>C | XP_005271590.1:p.Leu63Pro | |
| XM_011542796.1:c.77T>C | XP_011541098.1:p.Leu26Pro | |
| NM_000190.4:c.242T>C MANE Select | NP_000181.2:p.Leu81Pro | |
| NM_001024382.2:c.191T>C | NP_001019553.1:p.Leu64Pro | |
| XM_005271533.3:c.188T>C | XP_005271590.1:p.Leu63Pro | |
| XM_017017629.1:c.191T>C | XP_016873118.1:p.Leu64Pro | |
| XM_024448460.1:c.188T>C | XP_024304228.1:p.Leu63Pro | |
| NM_001258208.2:c.242T>C | NP_001245137.1:p.Leu81Pro | |
| NM_001258209.2:c.191T>C | NP_001245138.1:p.Leu64Pro |