Linked Data
ClinVar Variation Id:
96656
dbSNP Id:
rs199959946
ExAC:
15:90192985 C / T
gnomAD v2:
15-90192985-C-T
gnomAD v3:
15-89649754-C-T
gnomAD v4:
15-89649754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89649754C>T , CM000677.2:g.89649754C>T | GRCh38 |
| NC_000015.9:g.90192985C>T , CM000677.1:g.90192985C>T | GRCh37 |
| NC_000015.8:g.87993989C>T | NCBI36 |
| NG_030338.1:g.10698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696512.1:c.639G>A | ENSP00000512678.1:p.Glu213= | |
| ENST00000394412.8:c.516G>A MANE Select | ENSP00000377934.3:p.Glu172= | |
| ENST00000394412.7:c.516G>A | ENSP00000377934.3:p.Glu172= | |
| ENST00000445906.1:c.*175G>A | ENSP00000395906.1:n.*175G>A | |
| NM_198525.2:c.516G>A | NP_940927.2:p.Glu172= | |
| XM_005254902.2:c.516G>A | XP_005254959.1:p.Glu172= | |
| XM_011521531.1:c.639G>A | XP_011519833.1:p.Glu213= | |
| XM_011521532.1:c.639G>A | XP_011519834.1:p.Glu213= | |
| XM_011521533.1:c.639G>A | XP_011519835.1:p.Glu213= | |
| XM_011521534.1:c.639G>A | XP_011519836.1:p.Glu213= | |
| XM_011521535.1:c.639G>A | XP_011519837.1:p.Glu213= | |
| XM_011521536.1:c.639G>A | XP_011519838.1:p.Glu213= | |
| XM_011521537.1:c.639G>A | XP_011519839.1:p.Glu213= | |
| XM_011521531.2:c.639G>A | XP_011519833.1:p.Glu213= | |
| NM_198525.3:c.516G>A MANE Select | NP_940927.2:p.Glu172= |