Linked Data
ClinVar Variation Id:
217746
ClinVar RCV Id:
RCV000201791
dbSNP Id:
rs863225241
gnomAD v2:
1-155287787-G-A
gnomAD v4:
1-155317996-G-A
PubMed:
PMID:26202976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155317996G>A , CM000663.2:g.155317996G>A | GRCh38 |
| NC_000001.10:g.155287787G>A , CM000663.1:g.155287787G>A | GRCh37 |
| NC_000001.9:g.153554411G>A | NCBI36 |
| NG_045218.1:g.14249G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368356.9:c.536G>A (FDPS) MANE Select | ENSP00000357340.4:p.Arg179Gln | |
| ENST00000356657.10:c.536G>A (FDPS) | ENSP00000349078.6:p.Arg179Gln | |
| ENST00000368356.8:c.536G>A (FDPS) | ENSP00000357340.4:p.Arg179Gln | |
| ENST00000447866.5:c.338G>A (FDPS) | ENSP00000391755.1:p.Arg113Gln | |
| ENST00000461507.5:n.502G>A (FDPS) | ||
| ENST00000467076.5:c.338G>A (FDPS) | ENSP00000480142.1:p.Arg113Gln | |
| ENST00000468479.5:n.550G>A (FDPS) | ||
| ENST00000470171.5:n.448G>A (FDPS) | ||
| ENST00000471117.5:n.300G>A (FDPS) | ||
| ENST00000474345.5:c.*213G>A (FDPS) | ENSP00000478032.1:n.*213G>A | |
| ENST00000477057.5:n.431G>A (FDPS) | ||
| ENST00000489003.5:n.432G>A (FDPS) | ||
| ENST00000491013.5:c.536G>A (FDPS) | ENSP00000479557.1:p.Arg179Gln | |
| ENST00000495308.5:n.433G>A (FDPS) | ||
| ENST00000611010.4:c.23G>A (FDPS) | ENSP00000483188.1:p.Arg8Gln | |
| ENST00000612683.1:c.338G>A (FDPS) | ENSP00000478235.1:p.Arg113Gln | |
| NM_001135821.1:c.536G>A (FDPS) | NP_001129293.1:p.Arg179Gln | |
| NM_001135822.1:c.338G>A (FDPS) | NP_001129294.1:p.Arg113Gln | |
| NM_001242824.1:c.338G>A (FDPS) | NP_001229753.1:p.Arg113Gln | |
| NM_001242825.1:c.23G>A (FDPS) | NP_001229754.1:p.Arg8Gln | |
| NM_002004.3:c.536G>A (FDPS) | NP_001995.1:p.Arg179Gln | |
| XM_005244962.1:c.338G>A (FDPS) | XP_005245019.1:p.Arg113Gln | |
| XM_005244963.1:c.338G>A (FDPS) | XP_005245020.1:p.Arg113Gln | |
| NR_145424.1:n.637C>T (RUSC1-AS1) | ||
| NR_145425.1:n.362C>T (RUSC1-AS1) | ||
| XM_024454066.1:c.536G>A (FDPS) | XP_024309834.1:p.Arg179Gln | |
| XM_024454070.1:c.536G>A (FDPS) | XP_024309838.1:p.Arg179Gln | |
| XM_024454071.1:c.338G>A (FDPS) | XP_024309839.1:p.Arg113Gln | |
| XM_024454072.1:c.338G>A (FDPS) | XP_024309840.1:p.Arg113Gln | |
| XM_024454073.1:c.338G>A (FDPS) | XP_024309841.1:p.Arg113Gln | |
| XM_024454074.1:c.338G>A (FDPS) | XP_024309842.1:p.Arg113Gln | |
| XM_024454076.1:c.23G>A (FDPS) | XP_024309844.1:p.Arg8Gln | |
| NM_001135821.2:c.536G>A (FDPS) | NP_001129293.1:p.Arg179Gln | |
| NM_001135822.2:c.338G>A (FDPS) | NP_001129294.1:p.Arg113Gln | |
| NM_001242824.2:c.338G>A (FDPS) | NP_001229753.1:p.Arg113Gln | |
| NM_002004.4:c.536G>A (FDPS) MANE Select | NP_001995.1:p.Arg179Gln | |
| NM_001242825.2:c.23G>A (FDPS) | NP_001229754.1:p.Arg8Gln | |
| NM_001378424.1:c.338G>A (FDPS) | NP_001365353.1:p.Arg113Gln | |
| NM_001378425.1:c.338G>A (FDPS) | NP_001365354.1:p.Arg113Gln |