Linked Data
ClinVar Variation Id:
388990
dbSNP Id:
rs879274205
ExAC:
16:16297424 T / C
gnomAD v2:
16-16297424-T-C
gnomAD v3:
16-16203567-T-C
gnomAD v4:
16-16203567-T-C
PubMed:
PMID:11536079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16203567T>C , CM000678.2:g.16203567T>C | GRCh38 |
| NC_000016.9:g.16297424T>C , CM000678.1:g.16297424T>C | GRCh37 |
| NC_000016.8:g.16204925T>C | NCBI36 |
| NG_007558.2:g.24905A>G | |
| NG_007558.3:g.25051A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574094.6:c.841A>G | ENSP00000507301.1:p.Lys281Glu | |
| ENST00000622290.5:c.841A>G | ENSP00000483331.2:p.Lys281Glu | |
| ENST00000205557.12:c.841A>G MANE Select | ENSP00000205557.7:p.Lys281Glu | |
| ENST00000205557.11:c.841A>G | ENSP00000205557.7:p.Lys281Glu | |
| ENST00000456970.6:c.841A>G | ENSP00000405002.2:p.Lys281Glu | |
| ENST00000574094.5:n.937A>G | ||
| ENST00000577103.1:c.*708A>G | ENSP00000459243.1:n.*708A>G | |
| ENST00000622290.4:c.841A>G | ENSP00000483331.1:p.Lys281Glu | |
| NM_001171.5:c.841A>G | NP_001162.4:p.Lys281Glu | |
| XM_011522479.1:c.841A>G | XP_011520781.1:p.Lys281Glu | |
| XM_011522480.1:c.499A>G | XP_011520782.1:p.Lys167Glu | |
| XM_011522481.1:c.499A>G | XP_011520783.1:p.Lys167Glu | |
| XM_011522482.1:c.841A>G | XP_011520784.1:p.Lys281Glu | |
| XR_932836.1:n.1076A>G | ||
| XR_932837.1:n.1077A>G | ||
| XR_932838.1:n.1077A>G | ||
| NM_001351800.1:c.499A>G | NP_001338729.1:p.Lys167Glu | |
| NR_147784.1:n.878A>G | ||
| XM_011522479.2:c.841A>G | XP_011520781.1:p.Lys281Glu | |
| XM_011522481.3:c.499A>G | XP_011520783.1:p.Lys167Glu | |
| XM_011522482.3:c.841A>G | XP_011520784.1:p.Lys281Glu | |
| XM_017023212.1:c.841A>G | XP_016878701.1:p.Lys281Glu | |
| XM_017023214.1:c.841A>G | XP_016878703.1:p.Lys281Glu | |
| XM_024450261.1:c.877A>G | XP_024306029.1:p.Lys293Glu | |
| XR_932836.2:n.1022A>G | ||
| XR_932837.3:n.1022A>G | ||
| XR_932838.3:n.1022A>G | ||
| NM_001171.6:c.841A>G MANE Select | NP_001162.5:p.Lys281Glu |