Linked Data
ClinVar Variation Id:
1450
ClinVar RCV Id:
RCV000001515
dbSNP Id:
rs118204099
PubMed:
PMID:1714233
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092486T>G , CM000673.2:g.119092486T>G | GRCh38 |
| NC_000011.9:g.118963196T>G , CM000673.1:g.118963196T>G | GRCh37 |
| NC_000011.8:g.118468406T>G | NCBI36 |
| NG_008093.1:g.12610T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.569T>G | ENSP00000509288.1:p.Leu190Arg | |
| ENST00000691144.1:n.2715T>G | ||
| ENST00000691249.1:n.1558T>G | ||
| ENST00000442944.7:c.716T>G | ENSP00000392041.3:p.Leu239Arg | |
| ENST00000536813.6:c.683T>G | ENSP00000438726.2:p.Leu228Arg | |
| ENST00000640813.1:c.544T>G | ENSP00000491061.1:p.Phe182Val | |
| ENST00000648026.1:c.628T>G | ENSP00000498044.1:p.Phe210Val | |
| ENST00000648374.1:c.683T>G | ENSP00000497255.1:p.Leu228Arg | |
| ENST00000649823.1:n.1191T>G | ||
| ENST00000650101.1:c.665T>G | ENSP00000496970.1:p.Leu222Arg | |
| ENST00000650307.1:n.1560T>G | ||
| ENST00000652429.1:c.734T>G MANE Select | ENSP00000498786.1:p.Leu245Arg | |
| ENST00000278715.7:c.734T>G | ENSP00000278715.3:p.Leu245Arg | |
| ENST00000392841.1:c.683T>G | ENSP00000376584.1:p.Leu228Arg | |
| ENST00000442944.6:c.683T>G | ENSP00000392041.2:p.Leu228Arg | |
| ENST00000537841.5:c.683T>G | ENSP00000444730.1:p.Leu228Arg | |
| ENST00000542044.5:n.1179T>G | ||
| ENST00000542729.5:c.601-272T>G | ENSP00000443058.1:n.601-272T>G | |
| ENST00000543090.5:c.641T>G | ENSP00000445429.1:p.Leu214Arg | |
| ENST00000543543.5:n.1209T>G | ||
| ENST00000544182.1:n.949T>G | ||
| ENST00000544387.5:c.652-272T>G | ENSP00000438424.1:n.652-272T>G | |
| ENST00000545621.5:c.*869T>G | ENSP00000444849.1:n.*869T>G | |
| ENST00000546226.5:n.1262T>G | ||
| NM_000190.3:c.734T>G | NP_000181.2:p.Leu245Arg | |
| NM_001024382.1:c.683T>G | NP_001019553.1:p.Leu228Arg | |
| NM_001258208.1:c.652-272T>G | NP_001245137.1:n.652-272T>G | |
| NM_001258209.1:c.601-272T>G | NP_001245138.1:n.601-272T>G | |
| XM_005271531.1:c.683T>G | XP_005271588.1:p.Leu228Arg | |
| XM_005271532.1:c.683T>G | XP_005271589.1:p.Leu228Arg | |
| XM_005271533.2:c.680T>G | XP_005271590.1:p.Leu227Arg | |
| XM_011542796.1:c.569T>G | XP_011541098.1:p.Leu190Arg | |
| NM_000190.4:c.734T>G MANE Select | NP_000181.2:p.Leu245Arg | |
| NM_001024382.2:c.683T>G | NP_001019553.1:p.Leu228Arg | |
| XM_005271533.3:c.680T>G | XP_005271590.1:p.Leu227Arg | |
| XM_017017629.1:c.683T>G | XP_016873118.1:p.Leu228Arg | |
| XM_024448460.1:c.598-272T>G | XP_024304228.1:n.598-272T>G | |
| NM_001258208.2:c.652-272T>G | NP_001245137.1:n.652-272T>G | |
| NM_001258209.2:c.601-272T>G | NP_001245138.1:n.601-272T>G |