Linked Data
ClinVar Variation Id:
348583
ClinVar RCV Id:
RCV000352048
dbSNP Id:
rs375094936
ExAC:
4:2831756 G / A
gnomAD v2:
4-2831756-G-A
gnomAD v3:
4-2830029-G-A
gnomAD v4:
4-2830029-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2830029G>A , CM000666.2:g.2830029G>A | GRCh38 |
| NC_000004.11:g.2831756G>A , CM000666.1:g.2831756G>A | GRCh37 |
| NC_000004.10:g.2801554G>A | NCBI36 |
| NG_011609.1:g.42007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000435136.8:c.1207G>A | ENSP00000403231.3:p.Gly403Arg | |
| ENST00000503393.8:c.1123G>A MANE Select | ENSP00000422168.3:p.Gly375Arg | |
| ENST00000511747.6:c.1294G>A | ENSP00000424846.2:p.Gly432Arg | |
| ENST00000356331.9:c.1123G>A | ENSP00000348685.5:p.Gly375Arg | |
| ENST00000435136.6:c.1123G>A | ENSP00000403231.2:p.Gly375Arg | |
| ENST00000442312.6:c.1207G>A | ENSP00000388152.2:p.Gly403Arg | |
| ENST00000452765.6:c.1123G>A | ENSP00000409746.2:p.Gly375Arg | |
| ENST00000503393.6:c.1294G>A | ENSP00000422168.2:p.Gly432Arg | |
| ENST00000504450.1:n.539-1542G>A | ||
| ENST00000510204.5:n.1600G>A | ||
| ENST00000511747.5:c.1123G>A | ENSP00000424846.1:p.Gly375Arg | |
| ENST00000513069.1:c.233G>A | ||
| ENST00000515737.5:c.*1008G>A | ENSP00000422605.1:n.*1008G>A | |
| ENST00000515802.5:n.1229G>A | ||
| NM_001122681.1:c.1123G>A | NP_001116153.1:p.Gly375Arg | |
| NM_001145855.1:c.1207G>A | NP_001139327.1:p.Gly403Arg | |
| NM_001145856.1:c.1294G>A | NP_001139328.1:p.Gly432Arg | |
| NM_003023.4:c.1123G>A | NP_003014.3:p.Gly375Arg | |
| XM_005247998.3:c.1132G>A | XP_005248055.1:p.Gly378Arg | |
| XM_005247999.3:c.1123G>A | XP_005248056.1:p.Gly375Arg | |
| XM_011513547.1:c.1294G>A | XP_011511849.1:p.Gly432Arg | |
| XM_011513548.1:c.1123G>A | XP_011511850.1:p.Gly375Arg | |
| XM_011513549.1:c.1123G>A | XP_011511851.1:p.Gly375Arg | |
| XM_011513550.1:c.1123G>A | XP_011511852.1:p.Gly375Arg | |
| XM_011513551.1:c.1123G>A | XP_011511853.1:p.Gly375Arg | |
| XM_011513552.1:c.952G>A | XP_011511854.1:p.Gly318Arg | |
| XM_011513553.1:c.760G>A | XP_011511855.1:p.Gly254Arg | |
| XM_011513554.1:c.587-1542G>A | XP_011511856.1:n.587-1542G>A | |
| XM_011513555.1:c.587-1542G>A | XP_011511857.1:n.587-1542G>A | |
| XM_011513556.1:c.587-1542G>A | XP_011511858.1:n.587-1542G>A | |
| XR_924990.1:n.1127G>A | ||
| NM_001122681.2:c.1123G>A MANE Select | NP_001116153.1:p.Gly375Arg | |
| NM_001145855.2:c.1207G>A | NP_001139327.1:p.Gly403Arg | |
| NM_001145856.2:c.1294G>A | NP_001139328.1:p.Gly432Arg |