Linked Data
ClinVar Variation Id:
156153
dbSNP Id:
rs202198133
gnomAD v2:
11-111959626-G-A
gnomAD v4:
11-112088902-G-A
COSMIC:
COSM923089
PubMed:
PMID:24367056
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112088902G>A , CM000673.2:g.112088902G>A | GRCh38 |
| NC_000011.9:g.111959626G>A , CM000673.1:g.111959626G>A | GRCh37 |
| NC_000011.8:g.111464836G>A | NCBI36 |
| NG_012337.2:g.7056G>A | |
| NG_033145.1:g.2897C>T | |
| NG_012337.3:g.7056G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.205G>A | ENSP00000432946.2:p.Glu69Lys | |
| ENST00000534010.2:c.205G>A | ENSP00000433202.2:p.Glu69Lys | |
| ENST00000375549.8:c.205G>A MANE Select | ENSP00000364699.3:p.Glu69Lys | |
| ENST00000528021.6:c.205G>A | ENSP00000432465.1:p.Glu69Lys | |
| ENST00000640554.1:c.*277G>A | ENSP00000491141.1:n.*277G>A | |
| ENST00000375549.7:c.205G>A | ENSP00000364699.3:p.Glu69Lys | |
| ENST00000525291.5:c.88G>A | ENSP00000436669.1:p.Glu30Lys | |
| ENST00000525987.5:n.210G>A | ||
| ENST00000526592.5:c.205G>A | ENSP00000432005.1:p.Glu69Lys | |
| ENST00000528021.5:c.205G>A | ENSP00000432465.1:p.Glu69Lys | |
| ENST00000528048.5:c.169+929G>A | ENSP00000436217.1:n.169+929G>A | |
| ENST00000528182.5:c.205G>A | ENSP00000435475.1:p.Glu69Lys | |
| ENST00000530923.5:c.195G>A | ||
| ENST00000531744.5:c.205G>A | ENSP00000456957.1:p.Glu69Lys | |
| ENST00000532699.1:c.205G>A | ENSP00000456434.1:p.Glu69Lys | |
| ENST00000534010.1:c.36G>A | ||
| ENST00000614349.4:c.205G>A | ENSP00000480666.1:p.Glu69Lys | |
| NM_001276503.1:c.169+929G>A | NP_001263432.1:n.169+929G>A | |
| NM_001276504.1:c.88G>A | NP_001263433.1:p.Glu30Lys | |
| NM_001276506.1:c.205G>A | NP_001263435.1:p.Glu69Lys | |
| NM_003002.3:c.205G>A | NP_002993.1:p.Glu69Lys | |
| NR_077060.1:n.289G>A | ||
| NM_003002.4:c.205G>A MANE Select | NP_002993.1:p.Glu69Lys | |
| NM_001276503.2:c.169+929G>A | NP_001263432.1:n.169+929G>A | |
| NM_001276504.2:c.88G>A | NP_001263433.1:p.Glu30Lys | |
| NM_001276506.2:c.205G>A | NP_001263435.1:p.Glu69Lys | |
| NR_077060.2:n.240G>A |