Linked Data
ClinVar Variation Id:
158415
dbSNP Id:
rs62191977
ExAC:
2:242674959 T / G
gnomAD v2:
2-242674959-T-G
gnomAD v3:
2-241735544-T-G
gnomAD v4:
2-241735544-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.241735544T>G , CM000664.2:g.241735544T>G | GRCh38 |
| NC_000002.11:g.242674959T>G , CM000664.1:g.242674959T>G | GRCh37 |
| NC_000002.10:g.242323632T>G | NCBI36 |
| NG_012012.1:g.5930T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321264.9:c.292+28T>G MANE Select | ENSP00000315351.4:n.292+28T>G | |
| ENST00000321264.8:c.292+28T>G | ENSP00000315351.4:n.292+28T>G | |
| ENST00000400769.6:c.292+28T>G | ENSP00000383580.2:n.292+28T>G | |
| ENST00000403782.5:c.-111+849T>G | ENSP00000384723.1:n.-111+849T>G | |
| ENST00000436747.5:c.292+28T>G | ENSP00000400212.1:n.292+28T>G | |
| ENST00000463932.1:n.385+28T>G | ||
| NM_001287249.1:c.-111+849T>G | NP_001274178.1:n.-111+849T>G | |
| NM_152783.4:c.292+28T>G | NP_689996.4:n.292+28T>G | |
| NR_109778.1:n.501+28T>G | ||
| XM_011511734.1:c.292+28T>G | XP_011510036.1:n.292+28T>G | |
| XM_011511735.1:c.292+28T>G | XP_011510037.1:n.292+28T>G | |
| XM_011511736.1:c.292+28T>G | XP_011510038.1:n.292+28T>G | |
| XM_011511737.1:c.292+28T>G | XP_011510039.1:n.292+28T>G | |
| XM_011511738.1:c.292+28T>G | XP_011510040.1:n.292+28T>G | |
| XM_011511739.1:c.292+28T>G | XP_011510041.1:n.292+28T>G | |
| XM_011511740.1:c.292+28T>G | XP_011510042.1:n.292+28T>G | |
| XM_011511741.1:c.292+28T>G | XP_011510043.1:n.292+28T>G | |
| XM_011511742.1:c.292+28T>G | XP_011510044.1:n.292+28T>G | |
| XM_011511743.1:c.292+28T>G | XP_011510045.1:n.292+28T>G | |
| XM_011511744.1:c.292+28T>G | XP_011510046.1:n.292+28T>G | |
| XM_011511745.1:c.292+28T>G | XP_011510047.1:n.292+28T>G | |
| XM_011511746.1:c.292+28T>G | XP_011510048.1:n.292+28T>G | |
| XM_011511747.1:c.292+28T>G | XP_011510049.1:n.292+28T>G | |
| XM_011511748.1:c.292+28T>G | XP_011510050.1:n.292+28T>G | |
| XM_011511749.1:c.292+28T>G | XP_011510051.1:n.292+28T>G | |
| XM_011511750.1:c.292+28T>G | XP_011510052.1:n.292+28T>G | |
| XM_011511751.1:c.292+28T>G | XP_011510053.1:n.292+28T>G | |
| XM_011511752.1:c.292+28T>G | XP_011510054.1:n.292+28T>G | |
| XM_011511753.1:c.292+28T>G | XP_011510055.1:n.292+28T>G | |
| XM_011511756.1:c.292+28T>G | XP_011510058.1:n.292+28T>G | |
| XM_011511757.1:c.292+28T>G | XP_011510059.1:n.292+28T>G | |
| XM_011511758.1:c.292+28T>G | XP_011510060.1:n.292+28T>G | |
| XM_011511759.1:c.292+28T>G | XP_011510061.1:n.292+28T>G | |
| XM_011511760.1:c.292+28T>G | XP_011510062.1:n.292+28T>G | |
| XR_241434.3:n.452+28T>G | ||
| XR_923003.1:n.452+28T>G | ||
| XR_923004.1:n.452+28T>G | ||
| XR_923005.1:n.452+28T>G | ||
| XR_923006.1:n.452+28T>G | ||
| XR_923007.1:n.452+28T>G | ||
| XR_923008.1:n.452+28T>G | ||
| XR_923009.1:n.452+28T>G | ||
| XR_923010.1:n.452+28T>G | ||
| XR_923011.1:n.452+28T>G | ||
| XR_923012.1:n.452+28T>G | ||
| XR_923013.1:n.452+28T>G | ||
| XR_923014.1:n.452+28T>G | ||
| XR_923015.1:n.452+28T>G | ||
| XR_923016.1:n.452+28T>G | ||
| NM_001352824.1:c.-253+28T>G | NP_001339753.1:n.-253+28T>G | |
| XM_011511734.2:c.292+28T>G | XP_011510036.1:n.292+28T>G | |
| XM_011511735.2:c.292+28T>G | XP_011510037.1:n.292+28T>G | |
| XM_011511736.2:c.292+28T>G | XP_011510038.1:n.292+28T>G | |
| XM_011511737.3:c.292+28T>G | XP_011510039.1:n.292+28T>G | |
| XM_011511738.3:c.292+28T>G | XP_011510040.1:n.292+28T>G | |
| XM_011511739.2:c.292+28T>G | XP_011510041.1:n.292+28T>G | |
| XM_011511740.3:c.292+28T>G | XP_011510042.1:n.292+28T>G | |
| XM_011511741.3:c.292+28T>G | XP_011510043.1:n.292+28T>G | |
| XM_011511743.2:c.292+28T>G | XP_011510045.1:n.292+28T>G | |
| XM_011511744.2:c.292+28T>G | XP_011510046.1:n.292+28T>G | |
| XM_011511745.3:c.292+28T>G | XP_011510047.1:n.292+28T>G | |
| XM_011511746.3:c.292+28T>G | XP_011510048.1:n.292+28T>G | |
| XM_011511747.3:c.292+28T>G | XP_011510049.1:n.292+28T>G | |
| XM_011511749.3:c.292+28T>G | XP_011510051.1:n.292+28T>G | |
| XM_011511750.3:c.292+28T>G | XP_011510052.1:n.292+28T>G | |
| XM_011511751.2:c.292+28T>G | XP_011510053.1:n.292+28T>G | |
| XM_011511752.2:c.292+28T>G | XP_011510054.1:n.292+28T>G | |
| XM_011511753.3:c.292+28T>G | XP_011510055.1:n.292+28T>G | |
| XM_011511756.2:c.292+28T>G | XP_011510058.1:n.292+28T>G | |
| XM_011511757.3:c.292+28T>G | XP_011510059.1:n.292+28T>G | |
| XM_011511758.3:c.292+28T>G | XP_011510060.1:n.292+28T>G | |
| XM_011511759.3:c.292+28T>G | XP_011510061.1:n.292+28T>G | |
| XM_011511760.3:c.292+28T>G | XP_011510062.1:n.292+28T>G | |
| XM_017004827.2:c.292+28T>G | XP_016860316.1:n.292+28T>G | |
| XM_017004828.2:c.292+28T>G | XP_016860317.1:n.292+28T>G | |
| XM_017004829.2:c.292+28T>G | XP_016860318.1:n.292+28T>G | |
| XM_017004830.2:c.292+28T>G | XP_016860319.1:n.292+28T>G | |
| XM_017004832.2:c.292+28T>G | XP_016860321.1:n.292+28T>G | |
| XM_024453103.1:c.292+28T>G | XP_024308871.1:n.292+28T>G | |
| XR_001738918.2:n.451+28T>G | ||
| XR_001738919.2:n.451+28T>G | ||
| XR_002959334.1:n.451+28T>G | ||
| XR_002959335.1:n.451+28T>G | ||
| XR_241434.4:n.451+28T>G | ||
| XR_923004.3:n.451+28T>G | ||
| XR_923005.2:n.451+28T>G | ||
| XR_923007.3:n.451+28T>G | ||
| XR_923009.2:n.451+28T>G | ||
| XR_923010.2:n.451+28T>G | ||
| XR_923011.3:n.451+28T>G | ||
| XR_923012.2:n.451+28T>G | ||
| XR_923013.2:n.451+28T>G | ||
| XR_923014.3:n.451+28T>G | ||
| XR_923015.2:n.451+28T>G | ||
| XR_923016.3:n.451+28T>G | ||
| NM_152783.5:c.292+28T>G MANE Select | NP_689996.4:n.292+28T>G | |
| NM_001287249.2:c.-111+849T>G | NP_001274178.1:n.-111+849T>G | |
| NM_001352824.2:c.-253+28T>G | NP_001339753.1:n.-253+28T>G | |
| NR_109778.2:n.450+28T>G |