Linked Data
dbSNP Id:
rs1481845924
gnomAD v2:
20-3654314-G-C
gnomAD v3:
20-3673667-G-C
gnomAD v4:
20-3673667-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3673667G>C , CM000682.2:g.3673667G>C | GRCh38 |
| NC_000020.10:g.3654314G>C , CM000682.1:g.3654314G>C | GRCh37 |
| NC_000020.9:g.3602314G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.906-9C>G MANE Select | ENSP00000348912.3:n.906-9C>G | |
| ENST00000350009.6:c.906-9C>G | ENSP00000322550.5:n.906-9C>G | |
| ENST00000356518.6:c.906-9C>G | ENSP00000348912.2:n.906-9C>G | |
| ENST00000379861.8:c.906-9C>G | ENSP00000369190.4:n.906-9C>G | |
| ENST00000466620.5:n.81C>G | ||
| ENST00000617732.1:c.*631+645C>G | ENSP00000483343.1:n.*631+645C>G | |
| ENST00000619289.4:c.806+177C>G | ENSP00000484600.1:n.806+177C>G | |
| NM_001282447.1:c.906-9C>G | NP_001269376.1:n.906-9C>G | |
| NM_025220.3:c.906-9C>G | NP_079496.1:n.906-9C>G | |
| NM_153202.2:c.906-9C>G | NP_694882.1:n.906-9C>G | |
| XM_005260843.1:c.945-9C>G | XP_005260900.1:n.945-9C>G | |
| XM_006723639.1:c.945-9C>G | XP_006723702.1:n.945-9C>G | |
| XM_006723640.1:c.945-9C>G | XP_006723703.1:n.945-9C>G | |
| XM_006723644.2:c.945-9C>G | XP_006723707.1:n.945-9C>G | |
| XM_011529366.1:c.942-9C>G | XP_011527668.1:n.942-9C>G | |
| XM_011529367.1:c.903-9C>G | XP_011527669.1:n.903-9C>G | |
| XM_011529368.1:c.945-9C>G | XP_011527670.1:n.945-9C>G | |
| XM_011529369.1:c.945-9C>G | XP_011527671.1:n.945-9C>G | |
| XM_011529370.1:c.945-9C>G | XP_011527672.1:n.945-9C>G | |
| XM_011529371.1:c.945-9C>G | XP_011527673.1:n.945-9C>G | |
| XM_011529372.1:c.945-9C>G | XP_011527674.1:n.945-9C>G | |
| XM_011529373.1:c.-58C>G | XP_011527675.1:n.-58C>G | |
| XR_937151.1:n.1049-9C>G | ||
| XR_937152.1:n.1049-9C>G | ||
| XR_937153.1:n.1049-9C>G | ||
| XR_937154.1:n.1126C>G | ||
| XR_937155.1:n.1047C>G | ||
| XR_937157.1:n.1049-9C>G | ||
| NM_001282447.2:c.906-9C>G | NP_001269376.1:n.906-9C>G | |
| NM_025220.4:c.906-9C>G | NP_079496.1:n.906-9C>G | |
| NM_153202.3:c.906-9C>G | NP_694882.1:n.906-9C>G | |
| XM_011529371.2:c.945-9C>G | XP_011527673.1:n.945-9C>G | |
| XM_011529373.2:c.-58C>G | XP_011527675.1:n.-58C>G | |
| XM_017028080.2:c.1022C>G | XP_016883569.1:p.Pro341Arg | |
| XM_017028081.2:c.983C>G | XP_016883570.1:p.Pro328Arg | |
| XM_017028082.1:c.945-9C>G | XP_016883571.1:n.945-9C>G | |
| XM_017028083.1:c.945-9C>G | XP_016883572.1:n.945-9C>G | |
| XR_001754405.1:n.1049-9C>G | ||
| XR_002958534.1:n.1049-9C>G | ||
| NM_001282447.3:c.906-9C>G | NP_001269376.1:n.906-9C>G | |
| NM_025220.5:c.906-9C>G MANE Select | NP_079496.1:n.906-9C>G | |
| NM_153202.4:c.906-9C>G | NP_694882.1:n.906-9C>G |