Linked Data
ClinVar Variation Id:
3025671
ClinVar RCV Id:
RCV003885059
dbSNP Id:
rs746521600
ExAC:
11:55579335 A / G
gnomAD v2:
11-55579335-A-G
gnomAD v3:
11-55811859-A-G
gnomAD v4:
11-55811859-A-G
COSMIC:
COSM5414437
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.55811859A>G , CM000673.2:g.55811859A>G | GRCh38 |
| NC_000011.9:g.55579335A>G , CM000673.1:g.55579335A>G | GRCh37 |
| NC_000011.8:g.55335911A>G | NCBI36 |
| NG_052620.1:g.5493A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000625203.2:c.393A>G MANE Select | ENSP00000485319.1:p.Leu131= | |
| ENST00000333973.3:c.393A>G | ENSP00000335529.2:p.Leu131= | |
| ENST00000623450.1:c.393A>G | ENSP00000485509.1:p.Leu131= | |
| ENST00000625203.1:c.393A>G | ENSP00000485319.1:p.Leu131= | |
| NM_001004738.1:c.393A>G | NP_001004738.1:p.Leu131= | |
| NM_001004738.2:c.393A>G MANE Select | NP_001004738.1:p.Leu131= |