Linked Data
ClinVar Variation Id:
517616
dbSNP Id:
rs770804941
ExAC:
15:54025259 G / A
gnomAD v2:
15-54025259-G-A
gnomAD v3:
15-53733062-G-A
gnomAD v4:
15-53733062-G-A
COSMIC:
COSM1478196
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.53733062G>A , CM000677.2:g.53733062G>A | GRCh38 |
| NC_000015.9:g.54025259G>A , CM000677.1:g.54025259G>A | GRCh37 |
| NC_000015.8:g.51812551G>A | NCBI36 |
| NG_017034.2:g.31601C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360509.10:c.88C>T MANE Select | ENSP00000353699.5:p.Arg30Ter | |
| ENST00000360509.9:c.88C>T | ENSP00000353699.5:p.Arg30Ter | |
| ENST00000396328.5:c.88C>T | ENSP00000379619.1:p.Arg30Ter | |
| ENST00000557913.5:c.88C>T | ENSP00000453378.1:p.Arg30Ter | |
| ENST00000559418.5:c.88C>T | ENSP00000452765.1:p.Arg30Ter | |
| ENST00000560036.1:c.88C>T | ENSP00000453813.1:p.Arg30Ter | |
| NM_182758.3:c.88C>T | NP_877435.3:p.Arg30Ter | |
| NR_102334.1:n.328C>T | ||
| XM_011521433.1:c.88C>T | XP_011519735.1:p.Arg30Ter | |
| XM_011521434.1:c.88C>T | XP_011519736.1:p.Arg30Ter | |
| XM_011521435.1:c.88C>T | XP_011519737.1:p.Arg30Ter | |
| XM_011521436.1:c.88C>T | XP_011519738.1:p.Arg30Ter | |
| XM_011521437.1:c.88C>T | XP_011519739.1:p.Arg30Ter | |
| XM_011521433.2:c.88C>T | XP_011519735.1:p.Arg30Ter | |
| XM_011521435.2:c.88C>T | XP_011519737.1:p.Arg30Ter | |
| XM_011521436.2:c.88C>T | XP_011519738.1:p.Arg30Ter | |
| XM_011521437.2:c.88C>T | XP_011519739.1:p.Arg30Ter | |
| XM_017022061.1:c.88C>T | XP_016877550.1:p.Arg30Ter | |
| NM_182758.4:c.88C>T MANE Select | NP_877435.3:p.Arg30Ter | |
| NR_102334.2:n.328C>T |