Linked Data
ClinVar Variation Id:
2203761
ClinVar RCV Id:
RCV002664377
dbSNP Id:
rs368278073
MyVariant Identifiers:
chr14:g.68878244G>A (hg19)
MutSpliceDB:
CA486946548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68411527G>A , CM000676.2:g.68411527G>A | GRCh38 |
| NC_000014.8:g.68878244G>A , CM000676.1:g.68878244G>A | GRCh37 |
| NC_000014.7:g.67947997G>A | NCBI36 |
| NG_023267.1:g.596736G>A | |
| NG_023267.2:g.596749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460526.6:c.957G>A | ENSP00000518559.1:p.Gln319= | |
| ENST00000471583.6:c.957G>A MANE Select | ENSP00000418859.1:p.Gln319= | |
| ENST00000460526.5:n.276G>A | ||
| ENST00000468382.5:n.750G>A | ||
| ENST00000469165.6:n.276G>A | ||
| ENST00000471583.5:c.957G>A | ENSP00000418859.1:p.Gln319= | |
| ENST00000478014.5:n.304G>A | ||
| ENST00000479335.5:c.*728G>A | ENSP00000417408.1:n.*728G>A | |
| ENST00000487270.5:c.957G>A | ENSP00000419471.1:p.Gln319= | |
| ENST00000487861.5:c.957G>A | ENSP00000419881.1:p.Gln319= | |
| ENST00000488612.5:c.957G>A | ENSP00000420061.1:p.Gln319= | |
| ENST00000497460.5:n.417G>A | ||
| ENST00000553595.5:n.613G>A | ||
| ENST00000554183.1:n.154G>A | ||
| ENST00000554244.5:n.339G>A | ||
| ENST00000554575.2:c.18G>A | ENSP00000451616.1:p.Gln6= | |
| ENST00000557045.5:n.315G>A | ||
| NM_002877.5:c.957G>A | NP_002868.1:p.Gln319= | |
| NM_133509.3:c.957G>A | NP_598193.2:p.Gln319= | |
| NM_133510.3:c.957G>A | NP_598194.1:p.Gln319= | |
| XM_005267963.2:c.957G>A | XP_005268020.1:p.Gln319= | |
| XM_011537047.1:c.957G>A | XP_011535349.1:p.Gln319= | |
| XM_011537048.1:c.957G>A | XP_011535350.1:p.Gln319= | |
| XM_011537049.1:c.957G>A | XP_011535351.1:p.Gln319= | |
| XR_943503.1:n.1328G>A | ||
| NM_001321809.1:c.957G>A | NP_001308738.1:p.Gln319= | |
| NM_001321810.1:c.957G>A | NP_001308739.1:p.Gln319= | |
| NM_001321812.1:c.957G>A | NP_001308741.1:p.Gln319= | |
| NM_001321814.1:c.957G>A | NP_001308743.1:p.Gln319= | |
| NM_001321815.1:c.843G>A | NP_001308744.1:p.Gln281= | |
| NM_001321817.1:c.600G>A | NP_001308746.1:p.Gln200= | |
| NM_001321818.1:c.957G>A | NP_001308747.1:p.Gln319= | |
| NM_001321819.1:c.957G>A | NP_001308748.1:p.Gln319= | |
| NM_001321821.1:c.957G>A | NP_001308750.1:p.Gln319= | |
| XM_017021545.2:c.1251G>A | XP_016877034.1:p.Gln417= | |
| XM_017021546.1:c.654G>A | XP_016877035.1:p.Gln218= | |
| XM_017021547.1:c.600G>A | XP_016877036.1:p.Gln200= | |
| XM_017021548.1:c.225G>A | XP_016877037.1:p.Gln75= | |
| NM_001321817.2:c.600G>A | NP_001308746.1:p.Gln200= | |
| NM_002877.6:c.957G>A | NP_002868.1:p.Gln319= | |
| NM_133509.4:c.957G>A | NP_598193.2:p.Gln319= | |
| NM_133510.4:c.957G>A MANE Select | NP_598194.1:p.Gln319= | |
| NM_001321809.2:c.957G>A | NP_001308738.1:p.Gln319= | |
| NM_001321810.2:c.957G>A | NP_001308739.1:p.Gln319= | |
| NM_001321814.2:c.957G>A | NP_001308743.1:p.Gln319= | |
| NM_001321818.2:c.957G>A | NP_001308747.1:p.Gln319= | |
| NM_001321821.2:c.957G>A | NP_001308750.1:p.Gln319= | |
| NM_133509.5:c.957G>A | NP_598193.2:p.Gln319= |