Linked Data
ClinVar Variation Id:
317797
dbSNP Id:
rs748499820
ExAC:
16:14014083 C / G
gnomAD v2:
16-14014083-C-G
gnomAD v3:
16-13920226-C-G
gnomAD v4:
16-13920226-C-G
COSMIC:
COSM4657159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13920226C>G , CM000678.2:g.13920226C>G | GRCh38 |
| NC_000016.9:g.14014083C>G , CM000678.1:g.14014083C>G | GRCh37 |
| NC_000016.8:g.13921584C>G | NCBI36 |
| NG_011442.1:g.5070C>G , LRG_463:g.5070C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682552.1:n.49C>G | ||
| ENST00000682617.1:c.61C>G | ENSP00000507912.1:p.Gln21Glu | |
| ENST00000682826.1:c.61C>G | ENSP00000507274.1:p.Gln21Glu | |
| ENST00000682909.1:n.70C>G | ||
| ENST00000683277.1:n.48C>G | ||
| ENST00000683407.1:n.69C>G | ||
| ENST00000683962.1:c.61C>G | ENSP00000506854.1:p.Gln21Glu | |
| ENST00000311895.8:c.61C>G MANE Select | ENSP00000310520.7:p.Gln21Glu | |
| ENST00000311895.7:c.61C>G | ENSP00000310520.7:p.Gln21Glu | |
| ENST00000575156.5:c.61C>G | ENSP00000459933.1:p.Gln21Glu | |
| ENST00000576348.1:n.36C>G | ||
| NM_005236.2:c.61C>G , LRG_463t1:c.61C>G | NP_005227.1:p.Gln21Glu | |
| XM_011522424.1:c.61C>G | XP_011520726.1:p.Gln21Glu | |
| XR_932805.1:n.82C>G | ||
| XR_933098.1:n.82+6299G>C | ||
| XR_933099.1:n.82+6299G>C | ||
| XR_933100.1:n.82+6299G>C | ||
| XM_011522424.3:c.61C>G | XP_011520726.1:p.Gln21Glu | |
| XM_017023043.2:c.-877C>G | XP_016878532.1:n.-877C>G | |
| NM_005236.3:c.61C>G MANE Select | NP_005227.1:p.Gln21Glu |