Linked Data
ClinVar Variation Id:
194139
dbSNP Id:
rs141097070
ExAC:
15:90176923 G / A
gnomAD v2:
15-90176923-G-A
gnomAD v3:
15-89633692-G-A
gnomAD v4:
15-89633692-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89633692G>A , CM000677.2:g.89633692G>A | GRCh38 |
| NC_000015.9:g.90176923G>A , CM000677.1:g.90176923G>A | GRCh37 |
| NC_000015.8:g.87977927G>A | NCBI36 |
| NG_030338.1:g.26760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.2709C>T | ENSP00000512678.1:p.Arg903= | |
| ENST00000394412.8:c.2586C>T MANE Select | ENSP00000377934.3:p.Arg862= | |
| ENST00000394412.7:c.2586C>T | ENSP00000377934.3:p.Arg862= | |
| NM_198525.2:c.2586C>T | NP_940927.2:p.Arg862= | |
| XM_005254902.2:c.2586C>T | XP_005254959.1:p.Arg862= | |
| XM_011521531.1:c.2709C>T | XP_011519833.1:p.Arg903= | |
| XM_011521532.1:c.2706C>T | XP_011519834.1:p.Arg902= | |
| XM_011521533.1:c.2706C>T | XP_011519835.1:p.Arg902= | |
| XM_011521534.1:c.2709C>T | XP_011519836.1:p.Arg903= | |
| XM_011521535.1:c.2709C>T | XP_011519837.1:p.Arg903= | |
| XM_011521536.1:c.2709C>T | XP_011519838.1:p.Arg903= | |
| XM_011521537.1:c.2709C>T | XP_011519839.1:p.Arg903= | |
| XM_011521531.2:c.2709C>T | XP_011519833.1:p.Arg903= | |
| NM_198525.3:c.2586C>T MANE Select | NP_940927.2:p.Arg862= |