Linked Data
ClinVar Variation Id:
304814
dbSNP Id:
rs142949009
ExAC:
11:46748151 G / A
gnomAD v2:
11-46748151-G-A
gnomAD v3:
11-46726601-G-A
gnomAD v4:
11-46726601-G-A
COSMIC:
COSM927292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46726601G>A , CM000673.2:g.46726601G>A | GRCh38 |
| NC_000011.9:g.46748151G>A , CM000673.1:g.46748151G>A | GRCh37 |
| NC_000011.8:g.46704727G>A | NCBI36 |
| NG_008953.1:g.12409G>A , LRG_551:g.12409G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311907.10:c.978G>A MANE Select | ENSP00000308541.5:p.Pro326= | |
| ENST00000311907.9:c.978G>A | ENSP00000308541.5:p.Pro326= | |
| ENST00000442468.1:c.948G>A | ENSP00000387413.1:p.Pro316= | |
| ENST00000530231.5:c.978G>A | ENSP00000433907.1:p.Pro326= | |
| NM_000506.3:c.978G>A | NP_000497.1:p.Pro326= | |
| NM_000506.4:c.978G>A , LRG_551t1:c.978G>A | NP_000497.1:p.Pro326= | |
| NM_001311257.1:c.930G>A | NP_001298186.1:p.Pro310= | |
| XR_428840.2:n.1022G>A | ||
| XR_428840.4:n.1013G>A | ||
| NM_000506.5:c.978G>A MANE Select | NP_000497.1:p.Pro326= | |
| NM_001311257.2:c.930G>A | NP_001298186.1:p.Pro310= |