Linked Data
ClinVar Variation Id:
2544443
ClinVar RCV Id:
RCV004318711
dbSNP Id:
rs996270662
gnomAD v4:
20-3673651-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3673651C>T , CM000682.2:g.3673651C>T | GRCh38 |
| NC_000020.10:g.3654298C>T , CM000682.1:g.3654298C>T | GRCh37 |
| NC_000020.9:g.3602298C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.913G>A MANE Select | ENSP00000348912.3:p.Ala305Thr | |
| ENST00000350009.6:c.913G>A | ENSP00000322550.5:p.Ala305Thr | |
| ENST00000356518.6:c.913G>A | ENSP00000348912.2:p.Ala305Thr | |
| ENST00000379861.8:c.913G>A | ENSP00000369190.4:p.Ala305Thr | |
| ENST00000466620.5:n.97G>A | ||
| ENST00000617732.1:c.*631+661G>A | ENSP00000483343.1:n.*631+661G>A | |
| ENST00000619289.4:c.806+193G>A | ENSP00000484600.1:n.806+193G>A | |
| NM_001282447.1:c.913G>A | NP_001269376.1:p.Ala305Thr | |
| NM_025220.3:c.913G>A | NP_079496.1:p.Ala305Thr | |
| NM_153202.2:c.913G>A | NP_694882.1:p.Ala305Thr | |
| XM_005260843.1:c.952G>A | XP_005260900.1:p.Ala318Thr | |
| XM_006723639.1:c.952G>A | XP_006723702.1:p.Ala318Thr | |
| XM_006723640.1:c.952G>A | XP_006723703.1:p.Ala318Thr | |
| XM_006723644.2:c.952G>A | XP_006723707.1:p.Ala318Thr | |
| XM_011529366.1:c.949G>A | XP_011527668.1:p.Ala317Thr | |
| XM_011529367.1:c.910G>A | XP_011527669.1:p.Ala304Thr | |
| XM_011529368.1:c.952G>A | XP_011527670.1:p.Ala318Thr | |
| XM_011529369.1:c.952G>A | XP_011527671.1:p.Ala318Thr | |
| XM_011529370.1:c.952G>A | XP_011527672.1:p.Ala318Thr | |
| XM_011529371.1:c.952G>A | XP_011527673.1:p.Ala318Thr | |
| XM_011529372.1:c.952G>A | XP_011527674.1:p.Ala318Thr | |
| XM_011529373.1:c.-42G>A | XP_011527675.1:n.-42G>A | |
| XR_937151.1:n.1056G>A | ||
| XR_937152.1:n.1056G>A | ||
| XR_937153.1:n.1056G>A | ||
| XR_937154.1:n.1142G>A | ||
| XR_937155.1:n.1063G>A | ||
| XR_937157.1:n.1056G>A | ||
| NM_001282447.2:c.913G>A | NP_001269376.1:p.Ala305Thr | |
| NM_025220.4:c.913G>A | NP_079496.1:p.Ala305Thr | |
| NM_153202.3:c.913G>A | NP_694882.1:p.Ala305Thr | |
| XM_011529371.2:c.952G>A | XP_011527673.1:p.Ala318Thr | |
| XM_011529373.2:c.-42G>A | XP_011527675.1:n.-42G>A | |
| XM_017028080.2:c.1038G>A | XP_016883569.1:p.Ala346= | |
| XM_017028081.2:c.999G>A | XP_016883570.1:p.Ala333= | |
| XM_017028082.1:c.952G>A | XP_016883571.1:p.Ala318Thr | |
| XM_017028083.1:c.952G>A | XP_016883572.1:p.Ala318Thr | |
| XR_001754405.1:n.1056G>A | ||
| XR_002958534.1:n.1056G>A | ||
| NM_001282447.3:c.913G>A | NP_001269376.1:p.Ala305Thr | |
| NM_025220.5:c.913G>A MANE Select | NP_079496.1:p.Ala305Thr | |
| NM_153202.4:c.913G>A | NP_694882.1:p.Ala305Thr |