Linked Data
ClinVar Variation Id:
3074884
ClinVar RCV Id:
RCV004015410
dbSNP Id:
rs1427346219
gnomAD v2:
19-39062788-G-A
gnomAD v4:
19-38572148-G-A
COSMIC:
COSM5045010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38572148G>A , CM000681.2:g.38572148G>A | GRCh38 |
| NC_000019.9:g.39062788G>A , CM000681.1:g.39062788G>A | GRCh37 |
| NC_000019.8:g.43754628G>A | NCBI36 |
| NG_008866.1:g.143449G>A , LRG_766:g.143449G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.812G>A | ||
| ENST00000688602.1:c.2209G>A | ||
| ENST00000689936.1:c.2181G>A | ||
| ENST00000359596.8:c.13876G>A MANE Select | ENSP00000352608.2:p.Glu4626Lys | |
| ENST00000355481.8:c.13861G>A | ENSP00000347667.3:p.Glu4621Lys | |
| ENST00000359596.7:c.13876G>A | ENSP00000352608.2:p.Glu4626Lys | |
| ENST00000360985.7:c.13858G>A | ENSP00000354254.4:p.Glu4620Lys | |
| ENST00000593677.1:c.336G>A | ||
| NM_000540.2:c.13876G>A , LRG_766t1:c.13876G>A | NP_000531.2:p.Glu4626Lys | |
| NM_001042723.1:c.13861G>A | NP_001036188.1:p.Glu4621Lys | |
| XM_006723317.1:c.13858G>A | XP_006723380.1:p.Glu4620Lys | |
| XM_006723319.1:c.13843G>A | XP_006723382.1:p.Glu4615Lys | |
| XM_011527204.1:c.13873G>A | XP_011525506.1:p.Glu4625Lys | |
| XM_011527205.1:c.13789G>A | XP_011525507.1:p.Glu4597Lys | |
| XM_006723317.2:c.13858G>A | XP_006723380.1:p.Glu4620Lys | |
| XM_006723319.2:c.13843G>A | XP_006723382.1:p.Glu4615Lys | |
| XM_011527205.2:c.13789G>A | XP_011525507.1:p.Glu4597Lys | |
| NM_000540.3:c.13876G>A MANE Select | NP_000531.2:p.Glu4626Lys | |
| NM_001042723.2:c.13861G>A | NP_001036188.1:p.Glu4621Lys |