Linked Data
ClinVar Variation Id:
53386
ClinVar RCV Id:
RCV000577024
dbSNP Id:
rs77284892
PubMed:
PMID:17331079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117509047G>A , CM000669.2:g.117509047G>A | GRCh38 |
| NC_000007.13:g.117149101G>A , CM000669.1:g.117149101G>A | GRCh37 |
| NC_000007.12:g.116936337G>A | NCBI36 |
| NG_016465.4:g.48264G>A , LRG_663:g.48264G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.178G>A | ENSP00000497673.2:p.Glu60Lys | |
| ENST00000647978.2:c.*75G>A | ENSP00000497658.1:n.*75G>A | |
| ENST00000649781.2:c.178G>A | ENSP00000497203.1:p.Glu60Lys | |
| ENST00000649850.2:c.*75G>A | ENSP00000514457.1:n.*75G>A | |
| ENST00000685018.2:c.178G>A | ENSP00000510194.2:p.Glu60Lys | |
| ENST00000687278.2:c.178G>A | ENSP00000509593.2:p.Glu60Lys | |
| ENST00000699585.1:c.178G>A | ENSP00000514456.1:p.Glu60Lys | |
| ENST00000699596.1:c.178G>A | ENSP00000514465.1:p.Glu60Lys | |
| ENST00000699597.1:c.178G>A | ENSP00000514466.1:p.Glu60Lys | |
| ENST00000699598.1:c.178G>A | ENSP00000514467.1:p.Glu60Lys | |
| ENST00000699599.1:c.178G>A | ENSP00000514468.1:p.Glu60Lys | |
| ENST00000699600.1:c.178G>A | ENSP00000514469.1:p.Glu60Lys | |
| ENST00000699601.1:c.178G>A | ENSP00000514470.1:p.Glu60Lys | |
| ENST00000699602.1:c.178G>A | ENSP00000514471.1:p.Glu60Lys | |
| ENST00000699604.1:c.*2G>A | ENSP00000514472.1:n.*2G>A | |
| ENST00000699605.1:c.-66G>A | ENSP00000514473.1:n.-66G>A | |
| ENST00000446805.2:c.-66G>A | ENSP00000417012.1:n.-66G>A | |
| ENST00000003084.11:c.178G>A MANE Select | ENSP00000003084.6:p.Glu60Lys | |
| ENST00000647639.1:n.262G>A | ||
| ENST00000647978.1:c.*75G>A | ENSP00000497658.1:n.*75G>A | |
| ENST00000648260.1:c.178G>A | ENSP00000497957.1:p.Glu60Lys | |
| ENST00000649406.1:c.178G>A | ENSP00000497965.1:p.Glu60Lys | |
| ENST00000649781.1:c.178G>A | ENSP00000497203.1:p.Glu60Lys | |
| ENST00000649850.1:n.335G>A | ||
| ENST00000673785.1:c.-66G>A | ENSP00000501235.1:n.-66G>A | |
| ENST00000003084.10:c.178G>A | ENSP00000003084.6:p.Glu60Lys | |
| ENST00000426809.5:c.178G>A | ENSP00000389119.1:p.Glu60Lys | |
| ENST00000446805.1:c.-66G>A | ENSP00000417012.1:n.-66G>A | |
| NM_000492.3:c.178G>A , LRG_663t1:c.178G>A | NP_000483.3:p.Glu60Lys | |
| XM_011515751.1:c.268G>A | XP_011514053.1:p.Glu90Lys | |
| XM_011515752.1:c.268G>A | XP_011514054.1:p.Glu90Lys | |
| XM_011515753.1:c.-66G>A | XP_011514055.1:n.-66G>A | |
| XM_011515754.1:c.-66G>A | XP_011514056.1:n.-66G>A | |
| NM_000492.4:c.178G>A MANE Select | NP_000483.3:p.Glu60Lys |