Linked Data
ClinVar Variation Id:
181526
dbSNP Id:
rs730881018
ExAC:
10:112724154 A / C
gnomAD v2:
10-112724154-A-C
gnomAD v3:
10-110964396-A-C
gnomAD v4:
10-110964396-A-C
ERepo:
CA297169/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110964396A>C , CM000672.2:g.110964396A>C | GRCh38 |
| NC_000010.10:g.112724154A>C , CM000672.1:g.112724154A>C | GRCh37 |
| NC_000010.9:g.112714144A>C | NCBI36 |
| NG_028922.1:g.49854A>C , LRG_753:g.49854A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265277.10:c.38A>C | ENSP00000265277.5:p.Glu13Ala | |
| ENST00000451838.2:c.-242-36019A>C | ENSP00000408275.2:n.-242-36019A>C | |
| ENST00000480155.2:n.274A>C | ||
| ENST00000685059.1:c.38A>C | ENSP00000510210.1:p.Glu13Ala | |
| ENST00000685613.1:c.38A>C | ENSP00000510564.1:p.Glu13Ala | |
| ENST00000687592.1:n.337A>C | ||
| ENST00000688928.1:c.38A>C | ENSP00000509273.1:p.Glu13Ala | |
| ENST00000689118.1:c.38A>C | ENSP00000510554.1:p.Glu13Ala | |
| ENST00000689300.1:c.38A>C | ENSP00000510639.1:p.Glu13Ala | |
| ENST00000689997.1:c.-380-21232A>C | ENSP00000510700.1:n.-380-21232A>C | |
| ENST00000691151.1:n.330A>C | ||
| ENST00000691369.1:c.38A>C | ENSP00000509754.1:p.Glu13Ala | |
| ENST00000691441.1:c.38A>C | ENSP00000509686.1:p.Glu13Ala | |
| ENST00000691903.1:c.38A>C | ENSP00000510314.1:p.Glu13Ala | |
| ENST00000692776.1:c.38A>C | ENSP00000508524.1:p.Glu13Ala | |
| ENST00000369452.9:c.38A>C MANE Select | ENSP00000358464.5:p.Glu13Ala | |
| ENST00000265277.9:c.38A>C | ENSP00000265277.5:p.Glu13Ala | |
| ENST00000369452.8:c.38A>C | ENSP00000358464.4:p.Glu13Ala | |
| ENST00000480155.1:n.522A>C | ||
| ENST00000489390.1:n.56-36019A>C | ||
| ENST00000489783.1:n.416A>C | ||
| NM_001269039.1:c.38A>C | NP_001255968.1:p.Glu13Ala | |
| NM_007373.3:c.38A>C , LRG_753t1:c.38A>C | NP_031399.2:p.Glu13Ala | |
| XM_011540216.1:c.-380-21232A>C | XP_011538518.1:n.-380-21232A>C | |
| NM_001269039.2:c.38A>C | NP_001255968.1:p.Glu13Ala | |
| NM_001324336.1:c.38A>C | NP_001311265.1:p.Glu13Ala | |
| NM_001324337.1:c.38A>C | NP_001311266.1:p.Glu13Ala | |
| NR_136749.1:n.116-21232A>C | ||
| NM_007373.4:c.38A>C MANE Select | NP_031399.2:p.Glu13Ala | |
| NM_001269039.3:c.38A>C | NP_001255968.1:p.Glu13Ala | |
| NM_001324336.2:c.38A>C | NP_001311265.1:p.Glu13Ala | |
| NM_001324337.2:c.38A>C | NP_001311266.1:p.Glu13Ala | |
| NR_136749.2:n.55-21232A>C |