Linked Data
ClinVar Variation Id:
316677
ClinVar RCV Id:
RCV000283992
dbSNP Id:
rs559266901
ExAC:
15:58855765 G / A
gnomAD v2:
15-58855765-G-A
gnomAD v3:
15-58563566-G-A
gnomAD v4:
15-58563566-G-A
COSMIC:
COSM3816441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58563566G>A , CM000677.2:g.58563566G>A | GRCh38 |
| NC_000015.9:g.58855765G>A , CM000677.1:g.58855765G>A | GRCh37 |
| NC_000015.8:g.56643057G>A | NCBI36 |
| NG_011465.1:g.136591G>A | |
| NG_011465.2:g.136591G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.1231G>A MANE Select | ENSP00000299022.5:p.Gly411Ser | |
| ENST00000299022.9:c.1231G>A | ENSP00000299022.5:p.Gly411Ser | |
| ENST00000356113.10:c.1231G>A | ENSP00000348425.6:p.Gly411Ser | |
| ENST00000414170.7:c.1231G>A | ENSP00000395569.3:p.Gly411Ser | |
| ENST00000433326.2:c.1048G>A | ENSP00000395002.2:p.Gly350Ser | |
| ENST00000559845.5:n.1088G>A | ||
| NM_000236.2:c.1231G>A | NP_000227.2:p.Gly411Ser | |
| XM_005254372.1:c.1231G>A | XP_005254429.1:p.Gly411Ser | |
| XM_005254374.3:c.1168G>A | XP_005254431.1:p.Gly390Ser | |
| XM_006720502.2:c.1090G>A | XP_006720565.1:p.Gly364Ser | |
| XM_005254374.4:c.1267G>A | XP_005254431.2:p.Gly423Ser | |
| XM_006720502.4:c.1090G>A | XP_006720565.1:p.Gly364Ser | |
| XM_024449916.1:c.1231G>A | XP_024305684.1:p.Gly411Ser | |
| XM_024449917.1:c.1231G>A | XP_024305685.1:p.Gly411Ser | |
| NM_000236.3:c.1231G>A MANE Select | NP_000227.2:p.Gly411Ser |