Linked Data
dbSNP Id:
rs1018290961
gnomAD v2:
11-118963946-G-C
gnomAD v3:
11-119093236-G-C
gnomAD v4:
11-119093236-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119093236G>C , CM000673.2:g.119093236G>C | GRCh38 |
| NC_000011.9:g.118963946G>C , CM000673.1:g.118963946G>C | GRCh37 |
| NC_000011.8:g.118469156G>C | NCBI36 |
| NG_008093.1:g.13360G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.874G>C | ENSP00000509288.1:p.Ala292Pro | |
| ENST00000691144.1:n.3254G>C | ||
| ENST00000691249.1:n.1863G>C | ||
| ENST00000442944.7:c.1021G>C | ENSP00000392041.3:p.Ala341Pro | |
| ENST00000640813.1:c.*276G>C | ENSP00000491061.1:n.*276G>C | |
| ENST00000648026.1:c.933G>C | ENSP00000498044.1:n.933G>C | |
| ENST00000648374.1:c.988G>C | ENSP00000497255.1:p.Ala330Pro | |
| ENST00000650101.1:c.970G>C | ENSP00000496970.1:p.Ala324Pro | |
| ENST00000650307.1:n.1865G>C | ||
| ENST00000652429.1:c.1039G>C MANE Select | ENSP00000498786.1:p.Ala347Pro | |
| ENST00000278715.7:c.1039G>C | ENSP00000278715.3:p.Ala347Pro | |
| ENST00000392841.1:c.988G>C | ENSP00000376584.1:p.Ala330Pro | |
| ENST00000442944.6:c.988G>C | ENSP00000392041.2:p.Ala330Pro | |
| ENST00000537841.5:c.988G>C | ENSP00000444730.1:p.Ala330Pro | |
| ENST00000539045.1:n.538G>C | ||
| ENST00000542044.5:n.1484G>C | ||
| ENST00000542729.5:c.868G>C | ENSP00000443058.1:p.Ala290Pro | |
| ENST00000543090.5:c.946G>C | ENSP00000445429.1:p.Ala316Pro | |
| ENST00000543543.5:n.1514G>C | ||
| ENST00000544182.1:n.1488G>C | ||
| ENST00000544387.5:c.919G>C | ENSP00000438424.1:p.Ala307Pro | |
| ENST00000546226.5:n.1801G>C | ||
| NM_000190.3:c.1039G>C | NP_000181.2:p.Ala347Pro | |
| NM_001024382.1:c.988G>C | NP_001019553.1:p.Ala330Pro | |
| NM_001258208.1:c.919G>C | NP_001245137.1:p.Ala307Pro | |
| NM_001258209.1:c.868G>C | NP_001245138.1:p.Ala290Pro | |
| XM_005271531.1:c.988G>C | XP_005271588.1:p.Ala330Pro | |
| XM_005271532.1:c.988G>C | XP_005271589.1:p.Ala330Pro | |
| XM_005271533.2:c.985G>C | XP_005271590.1:p.Ala329Pro | |
| XM_011542796.1:c.874G>C | XP_011541098.1:p.Ala292Pro | |
| NM_000190.4:c.1039G>C MANE Select | NP_000181.2:p.Ala347Pro | |
| NM_001024382.2:c.988G>C | NP_001019553.1:p.Ala330Pro | |
| XM_005271533.3:c.985G>C | XP_005271590.1:p.Ala329Pro | |
| XM_017017629.1:c.988G>C | XP_016873118.1:p.Ala330Pro | |
| XM_024448460.1:c.865G>C | XP_024304228.1:p.Ala289Pro | |
| NM_001258208.2:c.919G>C | NP_001245137.1:p.Ala307Pro | |
| NM_001258209.2:c.868G>C | NP_001245138.1:p.Ala290Pro |