Linked Data
ClinVar Variation Id:
45343
ClinVar RCV Id:
RCV000038508
RCV000128195
RCV000224268
RCV000296571
RCV001094608
RCV002415476
RCV001813353
RCV002477103
dbSNP Id:
rs145155424
ExAC:
2:39262348 C / G
gnomAD v2:
2-39262348-C-G
gnomAD v3:
2-39035207-C-G
gnomAD v4:
2-39035207-C-G
ERepo:
CA136073/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39035207C>G , CM000664.2:g.39035207C>G | GRCh38 |
| NC_000002.11:g.39262348C>G , CM000664.1:g.39262348C>G | GRCh37 |
| NC_000002.10:g.39115852C>G | NCBI36 |
| NG_007530.1:g.90257G>C , LRG_754:g.90257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.1101+5G>C | ||
| ENST00000472480.2:n.954+5G>C | ||
| ENST00000685782.1:n.1865+5G>C | ||
| ENST00000689668.1:n.1081+5G>C | ||
| ENST00000690679.1:c.1174+5G>C | ||
| ENST00000690876.1:c.963+5G>C | ENSP00000508955.1:n.963+5G>C | |
| ENST00000691229.1:c.963+5G>C | ENSP00000510437.1:n.963+5G>C | |
| ENST00000692089.1:c.963+5G>C | ENSP00000508626.1:n.963+5G>C | |
| ENST00000402219.8:c.1074+5G>C MANE Select | ENSP00000384675.2:n.1074+5G>C | |
| ENST00000395038.6:c.1074+5G>C | ENSP00000378479.2:n.1074+5G>C | |
| ENST00000402219.6:c.1074+5G>C | ENSP00000384675.2:n.1074+5G>C | |
| ENST00000426016.5:c.1074+5G>C | ENSP00000387784.1:n.1074+5G>C | |
| ENST00000461545.1:n.424+5G>C | ||
| NM_005633.3:c.1074+5G>C , LRG_754t1:c.1074+5G>C | NP_005624.2:n.1074+5G>C | |
| XM_005264515.3:c.1074+5G>C | XP_005264572.1:n.1074+5G>C | |
| XM_011533060.1:c.1167+5G>C | XP_011531362.1:n.1167+5G>C | |
| XM_011533061.1:c.1167+5G>C | XP_011531363.1:n.1167+5G>C | |
| XM_011533062.1:c.1053+5G>C | XP_011531364.1:n.1053+5G>C | |
| XM_011533063.1:c.1050+5G>C | XP_011531365.1:n.1050+5G>C | |
| XM_011533064.1:c.903+5G>C | XP_011531366.1:n.903+5G>C | |
| XM_011533065.1:c.1167+5G>C | XP_011531367.1:n.1167+5G>C | |
| XM_005264515.4:c.1074+5G>C | XP_005264572.1:n.1074+5G>C | |
| XM_011533062.2:c.1053+5G>C | XP_011531364.1:n.1053+5G>C | |
| XM_011533064.2:c.903+5G>C | XP_011531366.1:n.903+5G>C | |
| NM_001382394.1:c.1053+5G>C | NP_001369323.1:n.1053+5G>C | |
| NM_001382395.1:c.1074+5G>C | NP_001369324.1:n.1074+5G>C | |
| NM_005633.4:c.1074+5G>C MANE Select | NP_005624.2:n.1074+5G>C |