Linked Data
ClinVar Variation Id:
316675
ClinVar RCV Id:
RCV000347290
dbSNP Id:
rs762534927
ExAC:
15:58853191 G / A
gnomAD v2:
15-58853191-G-A
gnomAD v4:
15-58560992-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58560992G>A , CM000677.2:g.58560992G>A | GRCh38 |
| NC_000015.9:g.58853191G>A , CM000677.1:g.58853191G>A | GRCh37 |
| NC_000015.8:g.56640483G>A | NCBI36 |
| NG_011465.1:g.134017G>A | |
| NG_011465.2:g.134017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299022.10:c.1169+11G>A MANE Select | ENSP00000299022.5:n.1169+11G>A | |
| ENST00000299022.9:c.1169+11G>A | ENSP00000299022.5:n.1169+11G>A | |
| ENST00000356113.10:c.1169+11G>A | ENSP00000348425.6:n.1169+11G>A | |
| ENST00000414170.7:c.1169+11G>A | ENSP00000395569.3:n.1169+11G>A | |
| ENST00000433326.2:c.986+11G>A | ENSP00000395002.2:n.986+11G>A | |
| ENST00000559845.5:n.1026+11G>A | ||
| NM_000236.2:c.1169+11G>A | NP_000227.2:n.1169+11G>A | |
| XM_005254372.1:c.1169+11G>A | XP_005254429.1:n.1169+11G>A | |
| XM_005254374.3:c.1106+11G>A | XP_005254431.1:n.1106+11G>A | |
| XM_006720502.2:c.1028+11G>A | XP_006720565.1:n.1028+11G>A | |
| XM_005254374.4:c.1205+11G>A | XP_005254431.2:n.1205+11G>A | |
| XM_006720502.4:c.1028+11G>A | XP_006720565.1:n.1028+11G>A | |
| XM_024449916.1:c.1169+11G>A | XP_024305684.1:n.1169+11G>A | |
| XM_024449917.1:c.1169+11G>A | XP_024305685.1:n.1169+11G>A | |
| NM_000236.3:c.1169+11G>A MANE Select | NP_000227.2:n.1169+11G>A |