Linked Data
ClinVar Variation Id:
39765
dbSNP Id:
rs397515421
ExAC:
6:151726922 C / T
gnomAD v2:
6-151726922-C-T
gnomAD v3:
6-151405787-C-T
gnomAD v4:
6-151405787-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.151405787C>T , CM000668.2:g.151405787C>T | GRCh38 |
| NC_000006.11:g.151726922C>T , CM000668.1:g.151726922C>T | GRCh37 |
| NC_000006.10:g.151768615C>T | NCBI36 |
| NG_033031.1:g.51395G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644054.2:c.*532G>A | ENSP00000496328.2:n.*532G>A | |
| ENST00000646926.2:c.*210G>A | ENSP00000494215.2:n.*210G>A | |
| ENST00000682004.1:n.2640G>A | ||
| ENST00000682299.1:c.1052G>A | ENSP00000506811.1:p.Arg351Gln | |
| ENST00000682392.1:c.*51G>A | ENSP00000508314.1:n.*51G>A | |
| ENST00000682641.1:c.1250G>A | ENSP00000506793.1:p.Arg417Gln | |
| ENST00000683439.1:n.3533G>A | ||
| ENST00000683724.1:c.1250G>A | ENSP00000507984.1:p.Arg417Gln | |
| ENST00000684301.1:c.*722G>A | ENSP00000507824.1:n.*722G>A | |
| ENST00000684605.1:n.1790G>A | ||
| ENST00000684765.1:c.*178G>A | ENSP00000507910.1:n.*178G>A | |
| ENST00000336451.8:c.*649G>A | ENSP00000336683.4:n.*649G>A | |
| ENST00000444024.3:c.1250G>A MANE Select | ENSP00000412708.2:p.Arg417Gln | |
| ENST00000622845.5:c.740G>A | ENSP00000481280.1:p.Arg247Gln | |
| ENST00000644054.1:c.1173G>A | ||
| ENST00000644711.1:c.*173G>A | ENSP00000494106.1:n.*173G>A | |
| ENST00000646926.1:c.593G>A | ||
| ENST00000336451.7:c.617G>A | ENSP00000336683.3:p.Arg206Gln | |
| ENST00000367303.8:c.1250G>A | ENSP00000356272.4:p.Arg417Gln | |
| ENST00000622845.4:c.740G>A | ENSP00000481280.1:p.Arg247Gln | |
| NM_001271937.1:c.740G>A | NP_001258866.1:p.Arg247Gln | |
| NM_017909.3:c.1250G>A | NP_060379.2:p.Arg417Gln | |
| XM_005267040.2:c.617G>A | XP_005267097.1:p.Arg206Gln | |
| XR_942497.1:n.1688G>A | ||
| XM_005267040.4:c.617G>A | XP_005267097.1:p.Arg206Gln | |
| XM_017010988.2:c.617G>A | XP_016866477.1:p.Arg206Gln | |
| XR_001743503.2:n.1418G>A | ||
| XR_002956288.1:n.1633G>A | ||
| NM_017909.4:c.1250G>A MANE Select | NP_060379.2:p.Arg417Gln | |
| NM_001271937.2:c.740G>A | NP_001258866.1:p.Arg247Gln |