Linked Data
ClinVar Variation Id:
42053
ClinVar RCV Id:
RCV000034881
dbSNP Id:
rs386134131
PubMed:
PMID:20301666
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.149178618C>T , CM000665.2:g.149178618C>T | GRCh38 |
| NC_000003.11:g.148896405C>T , CM000665.1:g.148896405C>T | GRCh37 |
| NC_000003.10:g.150379095C>T | NCBI36 |
| NG_011800.1:g.48428G>A | |
| NG_011800.2:g.48428G>A | |
| NG_011800.3:g.48428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264613.11:c.2675G>A MANE Select | ENSP00000264613.6:p.Gly892Glu | |
| ENST00000264613.10:c.2675G>A | ENSP00000264613.6:p.Gly892Glu | |
| ENST00000460674.5:n.592G>A | ||
| ENST00000463556.5:n.197G>A | ||
| ENST00000479771.5:c.80G>A | ENSP00000420367.1:p.Gly27Glu | |
| ENST00000481169.5:c.2462G>A | ENSP00000418773.1:p.Gly821Glu | |
| ENST00000490639.5:n.2707G>A | ||
| ENST00000494544.1:c.2024G>A | ENSP00000420545.1:p.Gly675Glu | |
| NM_000096.3:c.2675G>A | NP_000087.1:p.Gly892Glu | |
| NR_046371.1:n.2715G>A | ||
| XM_006713499.2:c.2675G>A | XP_006713562.1:p.Gly892Glu | |
| XM_006713500.2:c.2675G>A | XP_006713563.1:p.Gly892Glu | |
| XM_006713501.2:c.2675G>A | XP_006713564.1:p.Gly892Glu | |
| XM_011512435.1:c.2675G>A | XP_011510737.1:p.Gly892Glu | |
| XR_427361.2:n.2933G>A | ||
| XM_006713499.3:c.2675G>A | XP_006713562.1:p.Gly892Glu | |
| XM_006713500.4:c.2675G>A | XP_006713563.1:p.Gly892Glu | |
| XM_006713501.3:c.2675G>A | XP_006713564.1:p.Gly892Glu | |
| XM_011512435.2:c.2675G>A | XP_011510737.1:p.Gly892Glu | |
| XM_017005734.2:c.2675G>A | XP_016861223.1:p.Gly892Glu | |
| XM_017005735.2:c.2675G>A | XP_016861224.1:p.Gly892Glu | |
| XR_427361.3:n.2891G>A | ||
| NM_000096.4:c.2675G>A MANE Select | NP_000087.2:p.Gly892Glu | |
| NR_046371.2:n.2499G>A |