Linked Data
ClinVar Variation Id:
46288
dbSNP Id:
rs41303350
ExAC:
5:90136800 A / G
gnomAD v2:
5-90136800-A-G
gnomAD v3:
5-90840983-A-G
gnomAD v4:
5-90840983-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90840983A>G , CM000667.2:g.90840983A>G | GRCh38 |
| NC_000005.9:g.90136800A>G , CM000667.1:g.90136800A>G | GRCh37 |
| NC_000005.8:g.90172556A>G | NCBI36 |
| NG_007083.1:g.287184A>G | |
| NG_007083.2:g.316640A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.17017A>G MANE Select | ENSP00000384582.2:p.Lys5673Glu | |
| ENST00000425867.3:c.5971A>G | ENSP00000392618.3:p.Lys1991Glu | |
| ENST00000638510.1:n.4284A>G | ||
| ENST00000638990.1:c.38A>G | ||
| ENST00000639431.1:c.266-144361A>G | ENSP00000491057.1:n.266-144361A>G | |
| ENST00000640061.1:n.534A>G | ||
| ENST00000640407.1:c.3466A>G | ENSP00000491425.1:n.3466A>G | |
| ENST00000405460.6:c.17017A>G | ENSP00000384582.2:p.Lys5673Glu | |
| ENST00000425867.2:c.4000A>G | ENSP00000392618.2:p.Lys1334Glu | |
| NM_032119.3:c.17017A>G | NP_115495.3:p.Lys5673Glu | |
| NR_003149.1:n.17030A>G | ||
| XM_011543675.1:c.17014A>G | XP_011541977.1:p.Lys5672Glu | |
| XM_011543676.1:c.16936A>G | XP_011541978.1:p.Lys5646Glu | |
| XM_011543677.1:c.14320A>G | XP_011541979.1:p.Lys4774Glu | |
| NM_032119.4:c.17017A>G MANE Select | NP_115495.3:p.Lys5673Glu | |
| XM_017009963.2:c.17038A>G | XP_016865452.1:p.Lys5680Glu | |
| XM_017009964.2:c.17035A>G | XP_016865453.1:p.Lys5679Glu | |
| XM_017009965.1:c.17035A>G | XP_016865454.1:p.Lys5679Glu | |
| XM_017009966.2:c.16957A>G | XP_016865455.1:p.Lys5653Glu | |
| XM_017009967.1:c.16942A>G | XP_016865456.1:p.Lys5648Glu | |
| XM_017009968.2:c.16858A>G | XP_016865457.1:p.Lys5620Glu | |
| XM_017009969.2:c.17038A>G | XP_016865458.1:p.Lys5680Glu | |
| XM_017009972.1:c.10156A>G | XP_016865461.1:p.Lys3386Glu | |
| XM_017009973.1:c.10135A>G | XP_016865462.1:p.Lys3379Glu | |
| NR_003149.2:n.17033A>G |