Linked Data
ClinVar Variation Id:
424636
ClinVar RCV Id:
RCV000487460
dbSNP Id:
rs1064797087
PubMed:
PMID:28255014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128810662A>G , CM000673.2:g.128810662A>G | GRCh38 |
| NC_000011.9:g.128680557A>G , CM000673.1:g.128680557A>G | GRCh37 |
| NC_000011.8:g.128185767A>G | NCBI36 |
| NG_032912.1:g.129128A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696982.1:c.1054A>G | ENSP00000513017.1:p.Lys352Glu | |
| ENST00000527786.7:c.1033A>G MANE Select | ENSP00000433488.2:p.Lys345Glu | |
| ENST00000281428.12:c.835A>G | ENSP00000281428.8:p.Lys279Glu | |
| ENST00000344954.10:c.454A>G | ENSP00000339627.7:p.Lys152Glu | |
| ENST00000429175.7:c.*955A>G | ENSP00000399985.3:n.*955A>G | |
| ENST00000527786.6:c.1033A>G | ENSP00000433488.2:p.Lys345Glu | |
| ENST00000528790.1:n.3616A>G | ||
| ENST00000534087.3:c.934A>G | ENSP00000432950.1:p.Lys312Glu | |
| ENST00000608303.5:c.*425A>G | ENSP00000477262.1:n.*425A>G | |
| NM_001167681.2:c.934A>G | NP_001161153.1:p.Lys312Glu | |
| NM_001271010.1:c.835A>G | NP_001257939.1:p.Lys279Glu | |
| NM_001271012.1:c.454A>G | NP_001257941.1:p.Lys152Glu | |
| NM_002017.4:c.1033A>G | NP_002008.2:p.Lys345Glu | |
| XM_011542701.1:c.934A>G | XP_011541003.1:p.Lys312Glu | |
| XM_011542702.1:c.907A>G | XP_011541004.1:p.Lys303Glu | |
| XM_011542701.2:c.934A>G | XP_011541003.1:p.Lys312Glu | |
| XM_017017405.1:c.934A>G | XP_016872894.1:p.Lys312Glu | |
| XM_017017406.1:c.934A>G | XP_016872895.1:p.Lys312Glu | |
| NM_002017.5:c.1033A>G MANE Select | NP_002008.2:p.Lys345Glu | |
| NM_001167681.3:c.934A>G | NP_001161153.1:p.Lys312Glu | |
| NM_001271010.2:c.835A>G | NP_001257939.1:p.Lys279Glu | |
| NM_001271012.2:c.454A>G | NP_001257941.1:p.Lys152Glu |