Linked Data
ClinVar Variation Id:
296296
dbSNP Id:
rs12757197
ExAC:
1:235590559 G / A
gnomAD v2:
1-235590559-G-A
gnomAD v3:
1-235427244-G-A
gnomAD v4:
1-235427244-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235427244G>A , CM000663.2:g.235427244G>A | GRCh38 |
| NC_000001.10:g.235590559G>A , CM000663.1:g.235590559G>A | GRCh37 |
| NC_000001.9:g.233657182G>A | NCBI36 |
| NG_009230.1:g.64832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.372-3461G>A | ENSP00000355560.4:n.372-3461G>A | |
| ENST00000406207.5:c.560+5G>A | ENSP00000384571.1:n.560+5G>A | |
| ENST00000472011.6:n.646+5G>A | ||
| ENST00000482230.6:n.321+5G>A | ||
| ENST00000543662.4:c.560+5G>A | ENSP00000439170.1:n.560+5G>A | |
| ENST00000642339.1:c.*334+5G>A | ENSP00000495425.1:n.*334+5G>A | |
| ENST00000642372.1:c.368-6960G>A | ||
| ENST00000642431.1:c.1137+5G>A | ||
| ENST00000642463.1:c.*232+5G>A | ENSP00000495007.1:n.*232+5G>A | |
| ENST00000642503.1:c.*334+5G>A | ENSP00000494334.1:n.*334+5G>A | |
| ENST00000642610.2:c.560+5G>A MANE Select | ENSP00000494796.1:n.560+5G>A | |
| ENST00000643125.1:c.560+5G>A | ENSP00000494102.1:n.560+5G>A | |
| ENST00000643142.1:c.*51+5G>A | ENSP00000494755.1:n.*51+5G>A | |
| ENST00000643238.1:c.560+5G>A | ENSP00000495916.1:n.560+5G>A | |
| ENST00000643410.1:c.560+5G>A | ENSP00000495030.1:n.560+5G>A | |
| ENST00000643418.1:c.*334+5G>A | ENSP00000495711.1:n.*334+5G>A | |
| ENST00000643524.1:c.*146-3461G>A | ENSP00000494026.1:n.*146-3461G>A | |
| ENST00000643615.1:c.*334+5G>A | ENSP00000496103.1:n.*334+5G>A | |
| ENST00000643993.1:n.603+5G>A | ||
| ENST00000643994.1:c.*334+5G>A | ENSP00000496322.1:n.*334+5G>A | |
| ENST00000644037.1:c.*232+5G>A | ENSP00000496408.1:n.*232+5G>A | |
| ENST00000644055.1:c.*959+5G>A | ENSP00000496307.1:n.*959+5G>A | |
| ENST00000644217.1:c.560+5G>A | ENSP00000494646.1:n.560+5G>A | |
| ENST00000644265.1:c.256-6960G>A | ||
| ENST00000644578.1:c.374+5G>A | ENSP00000495953.1:n.374+5G>A | |
| ENST00000644604.1:c.560+5G>A | ENSP00000495961.1:n.560+5G>A | |
| ENST00000644680.1:c.*1081+5G>A | ENSP00000496173.1:n.*1081+5G>A | |
| ENST00000644838.1:c.560+5G>A | ENSP00000495910.1:n.560+5G>A | |
| ENST00000644910.1:c.303+5G>A | ||
| ENST00000645069.1:c.*334+5G>A | ENSP00000496644.1:n.*334+5G>A | |
| ENST00000645205.1:c.560+5G>A | ENSP00000495823.1:n.560+5G>A | |
| ENST00000645351.1:c.560+5G>A | ENSP00000494319.1:n.560+5G>A | |
| ENST00000645372.1:c.200+5G>A | ENSP00000496612.1:n.200+5G>A | |
| ENST00000645551.1:c.*51+5G>A | ENSP00000495928.1:n.*51+5G>A | |
| ENST00000645578.1:c.*334+5G>A | ENSP00000496495.1:n.*334+5G>A | |
| ENST00000645582.1:c.*390+5G>A | ENSP00000494980.1:n.*390+5G>A | |
| ENST00000645655.1:c.560+5G>A | ENSP00000495202.1:n.560+5G>A | |
| ENST00000645662.1:c.*245+5G>A | ENSP00000495964.1:n.*245+5G>A | |
| ENST00000645836.1:c.*334+5G>A | ENSP00000493915.1:n.*334+5G>A | |
| ENST00000645899.1:c.560+5G>A | ENSP00000496773.1:n.560+5G>A | |
| ENST00000645964.1:c.372-6960G>A | ENSP00000494208.1:n.372-6960G>A | |
| ENST00000646104.1:c.*390+5G>A | ENSP00000495475.1:n.*390+5G>A | |
| ENST00000646186.1:c.*232+5G>A | ENSP00000493806.1:n.*232+5G>A | |
| ENST00000646281.1:c.560+5G>A | ENSP00000495225.1:n.560+5G>A | |
| ENST00000646286.1:c.*453+5G>A | ENSP00000494291.1:n.*453+5G>A | |
| ENST00000646463.1:c.*232+5G>A | ENSP00000494541.1:n.*232+5G>A | |
| ENST00000646495.1:n.254+5G>A | ||
| ENST00000646528.1:c.*1050+5G>A | ENSP00000496553.1:n.*1050+5G>A | |
| ENST00000646536.1:c.560+5G>A | ENSP00000494801.1:n.560+5G>A | |
| ENST00000646624.1:c.560+5G>A | ENSP00000494575.1:n.560+5G>A | |
| ENST00000646821.1:c.372-3461G>A | ENSP00000495257.1:n.372-3461G>A | |
| ENST00000646842.1:n.230+5G>A | ||
| ENST00000646848.1:c.560+5G>A | ENSP00000495831.1:n.560+5G>A | |
| ENST00000646929.1:c.462+5G>A | ||
| ENST00000647186.1:c.560+5G>A | ENSP00000494775.1:n.560+5G>A | |
| ENST00000647233.1:n.676+5G>A | ||
| ENST00000647322.1:c.151+5G>A | ||
| ENST00000647332.1:c.*146-6960G>A | ENSP00000495024.1:n.*146-6960G>A | |
| ENST00000647407.1:c.326+5G>A | ENSP00000495319.1:n.326+5G>A | |
| ENST00000647418.1:c.*334+5G>A | ENSP00000493552.1:n.*334+5G>A | |
| ENST00000647428.1:c.221+5G>A | ENSP00000495630.1:n.221+5G>A | |
| ENST00000651186.1:c.221+5G>A | ENSP00000498645.1:n.221+5G>A | |
| ENST00000366601.7:c.560+5G>A | ENSP00000355560.3:n.560+5G>A | |
| ENST00000406207.4:c.560+5G>A | ENSP00000384571.1:n.560+5G>A | |
| ENST00000461651.1:n.346+5G>A | ||
| ENST00000472011.5:n.612+5G>A | ||
| ENST00000482230.5:n.775+5G>A | ||
| ENST00000543662.3:c.560+5G>A | ENSP00000439170.1:n.560+5G>A | |
| NM_001079515.2:c.560+5G>A | NP_001072983.1:n.560+5G>A | |
| NM_001287801.1:c.560+5G>A | NP_001274730.1:n.560+5G>A | |
| NM_001287802.1:c.221+5G>A | NP_001274731.1:n.221+5G>A | |
| NM_003193.4:c.560+5G>A | NP_003184.1:n.560+5G>A | |
| NM_003193.5:c.560+5G>A MANE Select | NP_003184.1:n.560+5G>A | |
| NM_001079515.3:c.560+5G>A | NP_001072983.1:n.560+5G>A | |
| NM_001287801.2:c.560+5G>A | NP_001274730.1:n.560+5G>A | |
| NM_001287802.2:c.221+5G>A | NP_001274731.1:n.221+5G>A |