Linked Data
ClinVar Variation Id:
1430155
ClinVar RCV Id:
RCV001967432
dbSNP Id:
rs763968845
ExAC:
20:62046438 C / T
gnomAD v2:
20-62046438-C-T
gnomAD v4:
20-63415085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63415085C>T , CM000682.2:g.63415085C>T | GRCh38 |
| NC_000020.10:g.62046438C>T , CM000682.1:g.62046438C>T | GRCh37 |
| NC_000020.9:g.61516882C>T | NCBI36 |
| NG_009004.1:g.62556G>A | |
| NG_009004.2:g.62556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.1289G>A | ENSP00000516702.1:p.Arg430Gln | |
| ENST00000359125.7:c.1343G>A MANE Select | ENSP00000352035.2:p.Arg448Gln | |
| ENST00000637193.1:c.740G>A | ENSP00000490734.1:p.Arg247Gln | |
| ENST00000637584.1:n.80G>A | ||
| ENST00000344462.8:c.1253G>A | ENSP00000339611.4:p.Arg418Gln | |
| ENST00000357249.6:c.911G>A | ENSP00000349789.3:p.Arg304Gln | |
| ENST00000359125.6:c.1343G>A | ENSP00000352035.2:p.Arg448Gln | |
| ENST00000360480.7:c.1259G>A | ENSP00000353668.3:p.Arg420Gln | |
| ENST00000370224.5:c.1259G>A | ENSP00000359244.2:p.Arg420Gln | |
| ENST00000625514.2:c.1223G>A | ENSP00000486040.1:p.Arg408Gln | |
| ENST00000626839.2:c.1289G>A | ENSP00000486706.1:p.Arg430Gln | |
| ENST00000627221.2:c.403G>A | ||
| ENST00000629241.2:c.1259G>A | ENSP00000487142.1:p.Arg420Gln | |
| ENST00000629676.2:c.1259G>A | ENSP00000486194.1:p.Arg420Gln | |
| NM_004518.4:c.1259G>A | NP_004509.2:p.Arg420Gln | |
| NM_172106.1:c.1289G>A | NP_742104.1:p.Arg430Gln | |
| NM_172107.2:c.1343G>A | NP_742105.1:p.Arg448Gln | |
| NM_172108.3:c.1253G>A | NP_742106.1:p.Arg418Gln | |
| XM_006723787.1:c.1343G>A | XP_006723850.1:p.Arg448Gln | |
| XM_011528807.1:c.1343G>A | XP_011527109.1:p.Arg448Gln | |
| XM_011528808.1:c.1343G>A | XP_011527110.1:p.Arg448Gln | |
| XM_011528809.1:c.1313G>A | XP_011527111.1:p.Arg438Gln | |
| XM_011528810.1:c.1289G>A | XP_011527112.1:p.Arg430Gln | |
| XM_011528811.1:c.1259G>A | XP_011527113.1:p.Arg420Gln | |
| XM_011528812.1:c.1343G>A | XP_011527114.1:p.Arg448Gln | |
| XM_011528813.1:c.1217G>A | XP_011527115.1:p.Arg406Gln | |
| XM_011528814.1:c.824G>A | XP_011527116.1:p.Arg275Gln | |
| XM_011528815.1:c.1343G>A | XP_011527117.1:p.Arg448Gln | |
| NM_004518.5:c.1259G>A | NP_004509.2:p.Arg420Gln | |
| NM_172106.2:c.1289G>A | NP_742104.1:p.Arg430Gln | |
| NM_172107.3:c.1343G>A | NP_742105.1:p.Arg448Gln | |
| NM_172108.4:c.1253G>A | NP_742106.1:p.Arg418Gln | |
| XM_011528810.2:c.1289G>A | XP_011527112.1:p.Arg430Gln | |
| XM_011528811.2:c.1259G>A | XP_011527113.1:p.Arg420Gln | |
| XM_017027841.2:c.1289G>A | XP_016883330.1:p.Arg430Gln | |
| XM_017027842.2:c.1289G>A | XP_016883331.1:p.Arg430Gln | |
| XM_017027843.1:c.1220G>A | XP_016883332.1:p.Arg407Gln | |
| XM_017027844.2:c.1289G>A | XP_016883333.1:p.Arg430Gln | |
| XM_017027845.1:c.251G>A | XP_016883334.1:p.Arg84Gln | |
| NM_004518.6:c.1259G>A | NP_004509.2:p.Arg420Gln | |
| NM_172106.3:c.1289G>A | NP_742104.1:p.Arg430Gln | |
| NM_172107.4:c.1343G>A MANE Select | NP_742105.1:p.Arg448Gln | |
| NM_172108.5:c.1253G>A | NP_742106.1:p.Arg418Gln | |
| NM_001382235.1:c.1289G>A | NP_001369164.1:p.Arg430Gln |