Linked Data
ClinVar Variation Id:
375982
dbSNP Id:
rs1057519733
COSMIC:
COSM232755
CIViC:
CA16602457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66481793G>A , CM000677.2:g.66481793G>A | GRCh38 |
| NC_000015.9:g.66774131G>A , CM000677.1:g.66774131G>A | GRCh37 |
| NC_000015.8:g.64561185G>A | NCBI36 |
| NG_008305.1:g.99921G>A , LRG_725:g.99921G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684779.1:c.541G>A | ENSP00000508681.1:p.Glu181Lys | |
| ENST00000685172.1:c.607G>A | ENSP00000509604.1:p.Glu203Lys | |
| ENST00000685763.1:c.460G>A | ENSP00000509016.1:p.Glu154Lys | |
| ENST00000686347.1:c.569-5435G>A | ENSP00000509027.1:n.569-5435G>A | |
| ENST00000687191.1:n.965G>A | ||
| ENST00000689951.1:c.658G>A | ENSP00000509308.1:p.Glu220Lys | |
| ENST00000691077.1:c.607G>A | ENSP00000509843.1:p.Glu203Lys | |
| ENST00000691576.1:c.569-3201G>A | ENSP00000510066.1:n.569-3201G>A | |
| ENST00000691937.1:c.607G>A | ENSP00000508768.1:p.Glu203Lys | |
| ENST00000692487.1:c.607G>A | ENSP00000509534.1:p.Glu203Lys | |
| ENST00000692683.1:c.541G>A | ENSP00000508437.1:p.Glu181Lys | |
| ENST00000693150.1:c.463G>A | ENSP00000510309.1:p.Glu155Lys | |
| ENST00000307102.10:c.607G>A MANE Select | ENSP00000302486.5:p.Glu203Lys | |
| ENST00000307102.9:c.607G>A | ENSP00000302486.4:p.Glu203Lys | |
| ENST00000566326.1:c.79G>A | ENSP00000456438.1:p.Glu27Lys | |
| NM_002755.3:c.607G>A , LRG_725t1:c.607G>A | NP_002746.1:p.Glu203Lys | |
| XM_011521783.1:c.541G>A | XP_011520085.1:p.Glu181Lys | |
| XM_011521783.3:c.541G>A | XP_011520085.1:p.Glu181Lys | |
| XM_017022411.2:c.529G>A | XP_016877900.1:p.Glu177Lys | |
| XM_017022412.1:c.463G>A | XP_016877901.1:p.Glu155Lys | |
| XM_017022413.1:c.79G>A | XP_016877902.1:p.Glu27Lys | |
| NM_002755.4:c.607G>A MANE Select | NP_002746.1:p.Glu203Lys |