Linked Data
ClinVar Variation Id:
224713
dbSNP Id:
rs758432471
ExAC:
1:1737952 C / T
gnomAD v2:
1-1737952-C-T
gnomAD v3:
1-1806513-C-T
gnomAD v4:
1-1806513-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1806513C>T , CM000663.2:g.1806513C>T | GRCh38 |
| NC_000001.10:g.1737952C>T , CM000663.1:g.1737952C>T | GRCh37 |
| NC_000001.9:g.1727812C>T | NCBI36 |
| NG_047052.1:g.89605G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000439272.7:c.190G>A | ENSP00000399741.3:p.Gly64Ser | |
| ENST00000615252.5:c.-72G>A | ENSP00000483532.1:n.-72G>A | |
| ENST00000703692.1:c.229G>A | ENSP00000515427.1:p.Gly77Ser | |
| ENST00000703693.1:c.229G>A | ENSP00000515428.1:p.Gly77Ser | |
| ENST00000703694.1:c.229G>A | ENSP00000515429.1:p.Gly77Ser | |
| ENST00000703695.1:c.229G>A | ENSP00000515430.1:p.Gly77Ser | |
| ENST00000703696.1:c.229G>A | ENSP00000515431.1:p.Gly77Ser | |
| ENST00000703697.1:c.229G>A | ENSP00000515432.1:p.Gly77Ser | |
| ENST00000703699.1:c.229G>A | ENSP00000515433.1:p.Gly77Ser | |
| ENST00000703700.1:c.229G>A | ENSP00000515434.1:p.Gly77Ser | |
| ENST00000703701.1:c.229G>A | ENSP00000515435.1:p.Gly77Ser | |
| ENST00000703702.1:c.229G>A | ENSP00000515436.1:p.Gly77Ser | |
| ENST00000703703.1:c.229G>A | ENSP00000515437.1:p.Gly77Ser | |
| ENST00000703704.1:c.229G>A | ENSP00000515438.1:p.Gly77Ser | |
| ENST00000703705.1:c.97G>A | ENSP00000515439.1:p.Gly33Ser | |
| ENST00000703706.1:c.229G>A | ENSP00000515440.1:p.Gly77Ser | |
| ENST00000703707.1:c.190G>A | ENSP00000515441.1:p.Gly64Ser | |
| ENST00000703708.1:c.229G>A | ENSP00000515442.1:p.Gly77Ser | |
| ENST00000703709.1:c.229G>A | ENSP00000515443.1:p.Gly77Ser | |
| ENST00000703710.1:c.229G>A | ENSP00000515444.1:p.Gly77Ser | |
| ENST00000703711.1:c.229G>A | ENSP00000515445.1:p.Gly77Ser | |
| ENST00000378609.9:c.229G>A MANE Select | ENSP00000367872.3:p.Gly77Ser | |
| ENST00000378609.8:c.229G>A | ENSP00000367872.3:p.Gly77Ser | |
| ENST00000434686.6:c.229G>A | ENSP00000392765.2:p.Gly77Ser | |
| ENST00000437146.1:c.229G>A | ENSP00000416651.1:p.Gly77Ser | |
| ENST00000439272.6:c.190G>A | ENSP00000399741.2:p.Gly64Ser | |
| ENST00000471354.1:n.833G>A | ||
| ENST00000610897.4:c.229G>A | ENSP00000481878.1:p.Gly77Ser | |
| ENST00000615252.4:c.-72G>A | ENSP00000483532.1:n.-72G>A | |
| NM_001282538.1:c.-72G>A | NP_001269467.1:n.-72G>A | |
| NM_001282539.1:c.229G>A | NP_001269468.1:p.Gly77Ser | |
| NM_002074.4:c.229G>A | NP_002065.1:p.Gly77Ser | |
| XM_017001059.2:c.229G>A | XP_016856548.1:p.Gly77Ser | |
| XM_017001060.2:c.229G>A | XP_016856549.1:p.Gly77Ser | |
| XM_017001061.2:c.229G>A | XP_016856550.1:p.Gly77Ser | |
| XM_024446495.1:c.229G>A | XP_024302263.1:p.Gly77Ser | |
| NM_002074.5:c.229G>A MANE Select | NP_002065.1:p.Gly77Ser | |
| NM_001282538.2:c.-72G>A | NP_001269467.1:n.-72G>A | |
| NM_001282539.2:c.229G>A | NP_001269468.1:p.Gly77Ser |