Linked Data
dbSNP Id:
rs1946187992
gnomAD v4:
11-119089692-G-C
COSMIC:
COSM6067560
MyVariant Identifiers:
chr11:g.118960402G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119089692G>C , CM000673.2:g.119089692G>C | GRCh38 |
| NC_000011.9:g.118960402G>C , CM000673.1:g.118960402G>C | GRCh37 |
| NC_000011.8:g.118465612G>C | NCBI36 |
| NG_008093.1:g.9816G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.111G>C | ENSP00000509288.1:p.Leu37= | |
| ENST00000686690.1:n.897G>C | ||
| ENST00000691144.1:n.2017G>C | ||
| ENST00000691249.1:n.860G>C | ||
| ENST00000442944.7:c.258G>C | ENSP00000392041.3:p.Leu86= | |
| ENST00000534956.2:n.225G>C | ||
| ENST00000536813.6:c.225G>C | ENSP00000438726.2:p.Leu75= | |
| ENST00000546302.6:c.267-298G>C | ENSP00000445599.1:n.267-298G>C | |
| ENST00000640813.1:c.225G>C | ENSP00000491061.1:p.Leu75= | |
| ENST00000648026.1:c.270G>C | ENSP00000498044.1:p.Leu90= | |
| ENST00000648374.1:c.225G>C | ENSP00000497255.1:p.Leu75= | |
| ENST00000648488.1:c.225G>C | ENSP00000498079.1:p.Leu75= | |
| ENST00000649823.1:n.493G>C | ||
| ENST00000649868.1:c.131G>C | ENSP00000497548.1:p.Trp44Ser | |
| ENST00000650101.1:c.207G>C | ENSP00000496970.1:p.Leu69= | |
| ENST00000650307.1:n.1102G>C | ||
| ENST00000652429.1:c.276G>C MANE Select | ENSP00000498786.1:p.Leu92= | |
| ENST00000278715.7:c.276G>C | ENSP00000278715.3:p.Leu92= | |
| ENST00000392841.1:c.225G>C | ENSP00000376584.1:p.Leu75= | |
| ENST00000442944.6:c.225G>C | ENSP00000392041.2:p.Leu75= | |
| ENST00000534956.1:n.192G>C | ||
| ENST00000535253.5:c.225G>C | ENSP00000442079.1:p.Leu75= | |
| ENST00000535793.5:c.*171G>C | ENSP00000439904.1:n.*171G>C | |
| ENST00000536185.5:n.394G>C | ||
| ENST00000536813.5:c.258G>C | ENSP00000438726.1:p.Leu86= | |
| ENST00000537841.5:c.225G>C | ENSP00000444730.1:p.Leu75= | |
| ENST00000539986.5:c.225G>C | ENSP00000440092.1:p.Leu75= | |
| ENST00000542044.5:n.721G>C | ||
| ENST00000542345.5:n.414G>C | ||
| ENST00000542729.5:c.225G>C | ENSP00000443058.1:p.Leu75= | |
| ENST00000542822.5:c.*212G>C | ENSP00000444817.1:n.*212G>C | |
| ENST00000543090.5:c.222G>C | ENSP00000445429.1:p.Leu74= | |
| ENST00000543543.5:n.511G>C | ||
| ENST00000543821.5:n.422G>C | ||
| ENST00000544360.5:n.244G>C | ||
| ENST00000544387.5:c.276G>C | ENSP00000438424.1:p.Leu92= | |
| ENST00000545621.5:c.*171G>C | ENSP00000444849.1:n.*171G>C | |
| ENST00000546226.5:n.335G>C | ||
| ENST00000546302.5:c.267-298G>C | ENSP00000445599.1:n.267-298G>C | |
| NM_000190.3:c.276G>C | NP_000181.2:p.Leu92= | |
| NM_001024382.1:c.225G>C | NP_001019553.1:p.Leu75= | |
| NM_001258208.1:c.276G>C | NP_001245137.1:p.Leu92= | |
| NM_001258209.1:c.225G>C | NP_001245138.1:p.Leu75= | |
| XM_005271531.1:c.225G>C | XP_005271588.1:p.Leu75= | |
| XM_005271532.1:c.225G>C | XP_005271589.1:p.Leu75= | |
| XM_005271533.2:c.222G>C | XP_005271590.1:p.Leu74= | |
| XM_011542796.1:c.111G>C | XP_011541098.1:p.Leu37= | |
| NM_000190.4:c.276G>C MANE Select | NP_000181.2:p.Leu92= | |
| NM_001024382.2:c.225G>C | NP_001019553.1:p.Leu75= | |
| XM_005271533.3:c.222G>C | XP_005271590.1:p.Leu74= | |
| XM_017017629.1:c.225G>C | XP_016873118.1:p.Leu75= | |
| XM_024448460.1:c.222G>C | XP_024304228.1:p.Leu74= | |
| NM_001258208.2:c.276G>C | NP_001245137.1:p.Leu92= | |
| NM_001258209.2:c.225G>C | NP_001245138.1:p.Leu75= |