Linked Data
ClinVar Variation Id:
402703
dbSNP Id:
rs35973257
ExAC:
17:76422599 C / T
gnomAD v2:
17-76422599-C-T
gnomAD v3:
17-78426518-C-T
gnomAD v4:
17-78426518-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78426518C>T , CM000679.2:g.78426518C>T | GRCh38 |
| NC_000017.10:g.76422599C>T , CM000679.1:g.76422599C>T | GRCh37 |
| NC_000017.9:g.73934194C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12854G>A MANE Select | ENSP00000374490.6:p.Arg4285Gln | |
| ENST00000389840.6:c.12854G>A | ENSP00000374490.6:p.Arg4285Gln | |
| ENST00000585328.5:c.12839G>A | ENSP00000465516.1:p.Arg4280Gln | |
| ENST00000586052.5:n.6015G>A | ||
| ENST00000586850.1:n.386G>A | ||
| ENST00000590227.5:n.2528G>A | ||
| ENST00000591369.5:c.4456G>A | ||
| ENST00000591647.1:n.203G>A | ||
| NM_173628.3:c.12854G>A | NP_775899.3:p.Arg4285Gln | |
| XM_011525416.1:c.12866G>A | XP_011523718.1:p.Arg4289Gln | |
| XM_011525418.1:c.6233G>A | XP_011523720.1:p.Arg2078Gln | |
| XM_011525416.2:c.12866G>A | XP_011523718.1:p.Arg4289Gln | |
| XM_017025261.2:c.6200G>A | XP_016880750.1:p.Arg2067Gln | |
| XM_024451013.1:c.12722G>A | XP_024306781.1:p.Arg4241Gln | |
| NM_173628.4:c.12854G>A MANE Select | NP_775899.3:p.Arg4285Gln |