Linked Data
ClinVar Variation Id:
1441205
ClinVar RCV Id:
RCV001967856
dbSNP Id:
rs954695400
gnomAD v3:
1-23313632-T-C
gnomAD v4:
1-23313632-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23313632T>C , CM000663.2:g.23313632T>C | GRCh38 |
| NC_000001.10:g.23640125T>C , CM000663.1:g.23640125T>C | GRCh37 |
| NC_000001.9:g.23512712T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463552.6:c.974A>G | ENSP00000502509.2:p.Glu325Gly | |
| ENST00000470941.6:c.911A>G | ENSP00000502234.2:p.Glu304Gly | |
| ENST00000476451.3:c.785A>G | ENSP00000502301.2:p.Glu262Gly | |
| ENST00000302271.11:c.1088A>G MANE Select | ENSP00000304405.6:p.Glu363Gly | |
| ENST00000675048.1:c.632A>G | ENSP00000502029.1:p.Glu211Gly | |
| ENST00000302271.10:c.1088A>G | ENSP00000304405.6:p.Glu363Gly | |
| ENST00000374612.5:c.1088A>G | ENSP00000363741.1:p.Glu363Gly | |
| ENST00000374616.7:c.1097A>G | ENSP00000363745.3:p.Glu366Gly | |
| ENST00000427764.3:c.974A>G | ENSP00000392799.2:p.Glu325Gly | |
| ENST00000463552.5:n.758A>G | ||
| ENST00000470941.5:n.527A>G | ||
| ENST00000478691.5:c.794A>G | ENSP00000474437.1:p.Glu265Gly | |
| ENST00000606561.5:c.671A>G | ENSP00000475760.1:p.Glu224Gly | |
| NM_001102397.2:c.785A>G | NP_001095867.1:p.Glu262Gly | |
| NM_001102398.2:c.1097A>G | NP_001095868.1:p.Glu366Gly | |
| NM_001102399.2:c.794A>G | NP_001095869.1:p.Glu265Gly | |
| NM_001297620.1:c.974A>G | NP_001284549.1:p.Glu325Gly | |
| NM_001297621.1:c.608A>G | NP_001284550.1:p.Glu203Gly | |
| NM_001297622.1:c.671A>G | NP_001284551.1:p.Glu224Gly | |
| NM_005826.4:c.1088A>G | NP_005817.1:p.Glu363Gly | |
| XM_005245711.3:c.1088A>G | XP_005245768.1:p.Glu363Gly | |
| XM_011540471.1:c.1097A>G | XP_011538773.1:p.Glu366Gly | |
| XM_011540472.1:c.920A>G | XP_011538774.1:p.Glu307Gly | |
| XM_011540473.1:c.911A>G | XP_011538775.1:p.Glu304Gly | |
| XM_011540474.1:c.983A>G | XP_011538776.1:p.Glu328Gly | |
| XM_011540475.1:c.983A>G | XP_011538777.1:p.Glu328Gly | |
| XM_011540476.1:c.680A>G | XP_011538778.1:p.Glu227Gly | |
| XM_011540477.1:c.617A>G | XP_011538779.1:p.Glu206Gly | |
| XM_005245711.5:c.1088A>G | XP_005245768.1:p.Glu363Gly | |
| XM_011540471.3:c.1097A>G | XP_011538773.1:p.Glu366Gly | |
| XM_011540472.3:c.920A>G | XP_011538774.1:p.Glu307Gly | |
| XM_011540474.3:c.983A>G | XP_011538776.1:p.Glu328Gly | |
| XM_011540475.3:c.983A>G | XP_011538777.1:p.Glu328Gly | |
| XM_011540476.3:c.680A>G | XP_011538778.1:p.Glu227Gly | |
| XM_011540477.3:c.617A>G | XP_011538779.1:p.Glu206Gly | |
| XM_017000008.2:c.974A>G | XP_016855497.1:p.Glu325Gly | |
| XM_017000009.2:c.911A>G | XP_016855498.1:p.Glu304Gly | |
| XM_017000010.2:c.911A>G | XP_016855499.1:p.Glu304Gly | |
| NM_005826.5:c.1088A>G MANE Select | NP_005817.1:p.Glu363Gly | |
| NM_001102397.3:c.785A>G | NP_001095867.1:p.Glu262Gly | |
| NM_001102398.3:c.1097A>G | NP_001095868.1:p.Glu366Gly | |
| NM_001102399.3:c.794A>G | NP_001095869.1:p.Glu265Gly | |
| NM_001297620.2:c.974A>G | NP_001284549.1:p.Glu325Gly | |
| NM_001297621.2:c.608A>G | NP_001284550.1:p.Glu203Gly | |
| NM_001297622.2:c.671A>G | NP_001284551.1:p.Glu224Gly |