Linked Data
ClinVar Variation Id:
1457
ClinVar RCV Id:
RCV000001522
dbSNP Id:
rs118204095
PubMed:
PMID:2025226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119091414G>T , CM000673.2:g.119091414G>T | GRCh38 |
| NC_000011.9:g.118962124G>T , CM000673.1:g.118962124G>T | GRCh37 |
| NC_000011.8:g.118467334G>T | NCBI36 |
| NG_008093.1:g.11538G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.335G>T | ENSP00000509288.1:p.Arg112Leu | |
| ENST00000686690.1:n.1350G>T | ||
| ENST00000691144.1:n.2241G>T | ||
| ENST00000691249.1:n.1084G>T | ||
| ENST00000442944.7:c.482G>T | ENSP00000392041.3:p.Arg161Leu | |
| ENST00000534956.2:n.448-447G>T | ||
| ENST00000536813.6:c.449G>T | ENSP00000438726.2:p.Arg150Leu | |
| ENST00000546302.6:c.422G>T | ENSP00000445599.1:p.Arg141Leu | |
| ENST00000640813.1:c.448-447G>T | ENSP00000491061.1:n.448-447G>T | |
| ENST00000648026.1:c.493-447G>T | ENSP00000498044.1:n.493-447G>T | |
| ENST00000648374.1:c.449G>T | ENSP00000497255.1:p.Arg150Leu | |
| ENST00000648488.1:c.*85+158G>T | ENSP00000498079.1:n.*85+158G>T | |
| ENST00000649823.1:n.717G>T | ||
| ENST00000649868.1:c.*207-447G>T | ENSP00000497548.1:n.*207-447G>T | |
| ENST00000650101.1:c.431G>T | ENSP00000496970.1:p.Arg144Leu | |
| ENST00000650307.1:n.1326G>T | ||
| ENST00000652429.1:c.500G>T MANE Select | ENSP00000498786.1:p.Arg167Leu | |
| ENST00000278715.7:c.500G>T | ENSP00000278715.3:p.Arg167Leu | |
| ENST00000392841.1:c.449G>T | ENSP00000376584.1:p.Arg150Leu | |
| ENST00000442944.6:c.449G>T | ENSP00000392041.2:p.Arg150Leu | |
| ENST00000534956.1:n.415-447G>T | ||
| ENST00000535253.5:c.449G>T | ENSP00000442079.1:p.Arg150Leu | |
| ENST00000535793.5:c.*395G>T | ENSP00000439904.1:n.*395G>T | |
| ENST00000537841.5:c.449G>T | ENSP00000444730.1:p.Arg150Leu | |
| ENST00000539986.5:c.449G>T | ENSP00000440092.1:p.Arg150Leu | |
| ENST00000542044.5:n.945G>T | ||
| ENST00000542345.5:n.638G>T | ||
| ENST00000542729.5:c.449G>T | ENSP00000443058.1:p.Arg150Leu | |
| ENST00000542822.5:c.*436G>T | ENSP00000444817.1:n.*436G>T | |
| ENST00000543090.5:c.446G>T | ENSP00000445429.1:p.Arg149Leu | |
| ENST00000543543.5:n.735G>T | ||
| ENST00000544360.5:n.468G>T | ||
| ENST00000544387.5:c.500G>T | ENSP00000438424.1:p.Arg167Leu | |
| ENST00000545621.5:c.*395G>T | ENSP00000444849.1:n.*395G>T | |
| ENST00000546226.5:n.788G>T | ||
| ENST00000546302.5:c.422G>T | ENSP00000445599.1:p.Arg141Leu | |
| NM_000190.3:c.500G>T | NP_000181.2:p.Arg167Leu | |
| NM_001024382.1:c.449G>T | NP_001019553.1:p.Arg150Leu | |
| NM_001258208.1:c.500G>T | NP_001245137.1:p.Arg167Leu | |
| NM_001258209.1:c.449G>T | NP_001245138.1:p.Arg150Leu | |
| XM_005271531.1:c.449G>T | XP_005271588.1:p.Arg150Leu | |
| XM_005271532.1:c.449G>T | XP_005271589.1:p.Arg150Leu | |
| XM_005271533.2:c.446G>T | XP_005271590.1:p.Arg149Leu | |
| XM_011542796.1:c.335G>T | XP_011541098.1:p.Arg112Leu | |
| NM_000190.4:c.500G>T MANE Select | NP_000181.2:p.Arg167Leu | |
| NM_001024382.2:c.449G>T | NP_001019553.1:p.Arg150Leu | |
| XM_005271533.3:c.446G>T | XP_005271590.1:p.Arg149Leu | |
| XM_017017629.1:c.449G>T | XP_016873118.1:p.Arg150Leu | |
| XM_024448460.1:c.446G>T | XP_024304228.1:p.Arg149Leu | |
| NM_001258208.2:c.500G>T | NP_001245137.1:p.Arg167Leu | |
| NM_001258209.2:c.449G>T | NP_001245138.1:p.Arg150Leu |