Linked Data
ClinVar Variation Id:
315637
dbSNP Id:
rs72720799
ExAC:
15:34634318 G / A
gnomAD v2:
15-34634318-G-A
gnomAD v3:
15-34342117-G-A
gnomAD v4:
15-34342117-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34342117G>A , CM000677.2:g.34342117G>A | GRCh38 |
| NC_000015.9:g.34634318G>A , CM000677.1:g.34634318G>A | GRCh37 |
| NC_000015.8:g.32421610G>A | NCBI36 |
| NG_007951.1:g.948C>T , LRG_270:g.948C>T | |
| NG_011562.1:g.6045C>T , LRG_345:g.6045C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557912.2:c.55-67C>T | ENSP00000453475.1:n.55-67C>T | |
| ENST00000699926.1:c.55-6C>T | ENSP00000514692.1:n.55-6C>T | |
| ENST00000699934.1:c.55-9C>T | ENSP00000514697.1:n.55-9C>T | |
| ENST00000699935.1:c.70C>T | ENSP00000514698.1:p.Leu24= | |
| ENST00000699936.1:c.-12-9C>T | ENSP00000514699.1:n.-12-9C>T | |
| ENST00000699937.1:c.40-9C>T | ENSP00000514700.1:n.40-9C>T | |
| ENST00000699938.1:c.55-9C>T | ENSP00000514701.1:n.55-9C>T | |
| ENST00000699939.1:n.260-67C>T | ||
| ENST00000328848.6:c.55-9C>T MANE Select | ENSP00000332198.5:n.55-9C>T | |
| ENST00000328848.5:c.55-9C>T | ENSP00000332198.4:n.55-9C>T | |
| ENST00000557912.1:c.55-67C>T | ENSP00000453475.1:n.55-67C>T | |
| NM_018648.3:c.55-9C>T , LRG_345t1:c.55-9C>T | NP_061118.1:n.55-9C>T | |
| NM_018648.4:c.55-9C>T MANE Select | NP_061118.1:n.55-9C>T |