Linked Data
ClinVar Variation Id:
52678
dbSNP Id:
rs80359136
gnomAD v2:
13-32953474-G-C
gnomAD v4:
13-32379337-G-C
PubMed:
PMID:19043619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32379337G>C , CM000675.2:g.32379337G>C | GRCh38 |
| NC_000013.10:g.32953474G>C , CM000675.1:g.32953474G>C | GRCh37 |
| NC_000013.9:g.31851474G>C | NCBI36 |
| NG_012772.3:g.68858G>C , LRG_293:g.68858G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8775G>C | ENSP00000434898.2:p.Gln2925His | |
| ENST00000528762.2:c.*142G>C | ENSP00000433168.2:n.*142G>C | |
| ENST00000530893.7:c.8406G>C | ENSP00000499438.2:p.Gln2802His | |
| ENST00000665585.2:c.*337G>C | ENSP00000499570.2:n.*337G>C | |
| ENST00000666593.2:c.8775G>C | ENSP00000499256.2:p.Gln2925His | |
| ENST00000700202.2:c.8775G>C | ENSP00000514856.2:p.Gln2925His | |
| ENST00000700202.1:c.1242G>C | ENSP00000514856.1:p.Gln414His | |
| ENST00000700203.1:n.902G>C | ||
| ENST00000380152.8:c.8775G>C MANE Select | ENSP00000369497.3:p.Gln2925His | |
| ENST00000544455.6:c.8775G>C | ENSP00000439902.1:p.Gln2925His | |
| ENST00000614259.2:c.8783G>C | ENSP00000506251.1:n.8783G>C | |
| ENST00000665585.1:c.1653G>C | ||
| ENST00000680887.1:c.8775G>C | ENSP00000505508.1:p.Gln2925His | |
| ENST00000380152.7:c.8775G>C | ENSP00000369497.3:p.Gln2925His | |
| ENST00000528762.1:c.337G>C | ENSP00000433168.1:n.337G>C | |
| ENST00000544455.5:c.8775G>C | ENSP00000439902.1:p.Gln2925His | |
| NM_000059.3:c.8775G>C , LRG_293t1:c.8775G>C | NP_000050.2:p.Gln2925His | |
| XM_011535203.1:c.8775G>C | XP_011533505.1:p.Gln2925His | |
| XM_011535204.1:c.8679G>C | XP_011533506.1:p.Gln2893His | |
| XM_011535205.1:c.8755-413G>C | XP_011533507.1:n.8755-413G>C | |
| NM_000059.4:c.8775G>C MANE Select | NP_000050.3:p.Gln2925His |