Linked Data
dbSNP Id:
rs1024400387
gnomAD v2:
5-141026979-G-C
gnomAD v3:
5-141647412-G-C
gnomAD v4:
5-141647412-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141647412G>C , CM000667.2:g.141647412G>C | GRCh38 |
| NC_000005.9:g.141026979G>C , CM000667.1:g.141026979G>C | GRCh37 |
| NC_000005.8:g.141007163G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435817.7:c.814C>G MANE Select | ENSP00000399259.2:p.Gln272Glu | |
| ENST00000435817.6:c.814C>G | ENSP00000399259.2:p.Gln272Glu | |
| ENST00000522126.5:c.586C>G | ENSP00000427796.1:p.Gln196Glu | |
| ENST00000522386.1:n.420C>G | ||
| ENST00000522763.5:n.118C>G | ||
| ENST00000522783.5:c.808C>G | ENSP00000428677.1:p.Gln270Glu | |
| ENST00000523856.5:n.72C>G | ||
| NM_033449.2:c.814C>G | NP_258260.1:p.Gln272Glu | |
| XM_005268524.3:c.808C>G | XP_005268581.1:p.Gln270Glu | |
| XM_006714803.2:c.685C>G | XP_006714866.1:p.Gln229Glu | |
| XM_011537698.1:c.814C>G | XP_011536000.1:p.Gln272Glu | |
| XM_011537699.1:c.814C>G | XP_011536001.1:p.Gln272Glu | |
| XM_011537700.1:c.814C>G | XP_011536002.1:p.Gln272Glu | |
| XM_011537701.1:c.814C>G | XP_011536003.1:p.Gln272Glu | |
| XR_427781.2:n.868C>G | ||
| XR_944338.1:n.874C>G | ||
| XR_944339.1:n.874C>G | ||
| XM_005268524.5:c.808C>G | XP_005268581.1:p.Gln270Glu | |
| XM_006714803.4:c.685C>G | XP_006714866.1:p.Gln229Glu | |
| XM_011537698.3:c.814C>G | XP_011536000.1:p.Gln272Glu | |
| XM_011537700.3:c.814C>G | XP_011536002.1:p.Gln272Glu | |
| XM_011537701.3:c.814C>G | XP_011536003.1:p.Gln272Glu | |
| XM_017010013.2:c.814C>G | XP_016865502.1:p.Gln272Glu | |
| XR_002956197.1:n.810C>G | ||
| XR_427781.4:n.810C>G | ||
| XR_944338.3:n.889C>G | ||
| XR_944339.3:n.889C>G | ||
| NM_033449.3:c.814C>G MANE Select | NP_258260.1:p.Gln272Glu |