Linked Data
ClinVar Variation Id:
456329
dbSNP Id:
rs181782315
ExAC:
16:3633486 G / A
gnomAD v2:
16-3633486-G-A
gnomAD v3:
16-3583485-G-A
gnomAD v4:
16-3583485-G-A
COSMIC:
COSM4060647
MyVariant Identifiers:
chr16:g.3633486G>A (hg19)
chr16:g.3633486_3633487delinsAT (hg19)
chr16:g.3583485G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3583485G>A , CM000678.2:g.3583485G>A | GRCh38 |
| NC_000016.9:g.3633486G>A , CM000678.1:g.3633486G>A | GRCh37 |
| NC_000016.8:g.3573487G>A | NCBI36 |
| NG_028123.1:g.33100C>T , LRG_503:g.33100C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.4765C>T MANE Select | ENSP00000294008.3:p.Arg1589Cys | |
| ENST00000294008.3:c.4765C>T | ENSP00000294008.3:p.Arg1589Cys | |
| NM_032444.2:c.4765C>T , LRG_503t1:c.4765C>T | NP_115820.2:p.Arg1589Cys | |
| XM_011522715.1:c.4762C>T | XP_011521017.1:p.Arg1588Cys | |
| NM_032444.3:c.4765C>T | NP_115820.2:p.Arg1589Cys | |
| XM_011522715.3:c.4762C>T | XP_011521017.1:p.Arg1588Cys | |
| XM_017023775.2:c.3943C>T | XP_016879264.1:p.Arg1315Cys | |
| XM_024450471.1:c.4765C>T | XP_024306239.1:p.Arg1589Cys | |
| NM_032444.4:c.4765C>T MANE Select | NP_115820.2:p.Arg1589Cys |