Linked Data
ClinVar Variation Id:
187781
ClinVar RCV Id:
RCV000167538
dbSNP Id:
rs759500860
ExAC:
11:72004598 C / A
gnomAD v2:
11-72004598-C-A
gnomAD v4:
11-72293554-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72293554C>A , CM000673.2:g.72293554C>A | GRCh38 |
| NC_000011.9:g.72004598C>A , CM000673.1:g.72004598C>A | GRCh37 |
| NC_000011.8:g.71682246C>A | NCBI36 |
| NG_042130.1:g.146131G>T | |
| NG_042130.2:g.146131G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000535990.6:c.*1537G>T | ENSP00000443822.2:n.*1537G>T | |
| ENST00000695924.1:n.2716G>T | ||
| ENST00000695925.1:n.3428G>T | ||
| ENST00000294053.9:c.1937G>T MANE Plus Clinical | ENSP00000294053.3:p.Gly646Val | |
| ENST00000535477.6:c.*1272G>T | ENSP00000440423.2:n.*1272G>T | |
| ENST00000538039.6:c.1847G>T MANE Select | ENSP00000441518.1:p.Gly616Val | |
| ENST00000543042.6:c.1892G>T | ENSP00000439746.2:p.Gly631Val | |
| ENST00000642187.1:c.1355G>T | ENSP00000494594.1:n.1355G>T | |
| ENST00000645105.1:n.1265G>T | ||
| ENST00000646359.1:n.1025G>T | ||
| ENST00000294053.7:c.1937G>T | ENSP00000294053.3:p.Gly646Val | |
| ENST00000340729.9:c.1760G>T | ENSP00000340385.5:p.Gly587Val | |
| ENST00000437826.6:c.1802G>T | ENSP00000407296.2:p.Gly601Val | |
| ENST00000535477.5:c.*267G>T | ENSP00000440423.1:n.*267G>T | |
| ENST00000535990.5:c.1952G>T | ENSP00000443822.1:p.Gly651Val | |
| ENST00000538021.5:c.864G>T | ENSP00000445180.2:n.864G>T | |
| ENST00000538039.5:c.1847G>T | ENSP00000441518.1:p.Gly616Val | |
| ENST00000543042.5:c.1334G>T | ENSP00000439746.1:p.Gly445Val | |
| NM_001258392.1:c.1847G>T | NP_001245321.1:p.Gly616Val | |
| NM_001258392.2:c.1847G>T | NP_001245321.1:p.Gly616Val | |
| NM_001258393.1:c.1760G>T | NP_001245322.1:p.Gly587Val | |
| NM_001258393.2:c.1760G>T | NP_001245322.1:p.Gly587Val | |
| NM_001258394.1:c.1802G>T | NP_001245323.1:p.Gly601Val | |
| NM_001258394.2:c.1802G>T | NP_001245323.1:p.Gly601Val | |
| NM_030813.4:c.1937G>T | NP_110440.1:p.Gly646Val | |
| NM_030813.5:c.1937G>T | NP_110440.1:p.Gly646Val | |
| XM_005274320.1:c.1850G>T | XP_005274377.1:p.Gly617Val | |
| XM_011545288.1:c.1892G>T | XP_011543590.1:p.Gly631Val | |
| NM_001258392.3:c.1847G>T MANE Select | NP_001245321.1:p.Gly616Val | |
| NM_001258393.3:c.1760G>T | NP_001245322.1:p.Gly587Val | |
| NM_030813.6:c.1937G>T MANE Plus Clinical | NP_110440.1:p.Gly646Val | |
| NM_001258394.3:c.1802G>T | NP_001245323.1:p.Gly601Val |