Linked Data
ClinVar Variation Id:
2872808
ClinVar RCV Id:
RCV003709505
dbSNP Id:
rs751443092
ExAC:
1:235600805 A / G
gnomAD v2:
1-235600805-A-G
gnomAD v4:
1-235437490-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.235437490A>G , CM000663.2:g.235437490A>G | GRCh38 |
| NC_000001.10:g.235600805A>G , CM000663.1:g.235600805A>G | GRCh37 |
| NC_000001.9:g.233667428A>G | NCBI36 |
| NG_009230.1:g.75078A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366601.8:c.927+16A>G | ENSP00000355560.4:n.927+16A>G | |
| ENST00000406207.5:c.1116+16A>G | ENSP00000384571.1:n.1116+16A>G | |
| ENST00000472011.6:n.1840+16A>G | ||
| ENST00000543662.4:c.1269+16A>G | ENSP00000439170.1:n.1269+16A>G | |
| ENST00000642339.1:c.*813+16A>G | ENSP00000495425.1:n.*813+16A>G | |
| ENST00000642431.1:c.1693+16A>G | ||
| ENST00000642463.1:c.*1014+16A>G | ENSP00000495007.1:n.*1014+16A>G | |
| ENST00000642503.1:c.*890+16A>G | ENSP00000494334.1:n.*890+16A>G | |
| ENST00000642610.2:c.1116+16A>G MANE Select | ENSP00000494796.1:n.1116+16A>G | |
| ENST00000642764.1:n.1947+16A>G | ||
| ENST00000643125.1:c.*131+16A>G | ENSP00000494102.1:n.*131+16A>G | |
| ENST00000643142.1:c.*607+16A>G | ENSP00000494755.1:n.*607+16A>G | |
| ENST00000643238.1:c.*136+16A>G | ENSP00000495916.1:n.*136+16A>G | |
| ENST00000643410.1:c.*406+16A>G | ENSP00000495030.1:n.*406+16A>G | |
| ENST00000643487.1:n.1803+16A>G | ||
| ENST00000643524.1:c.*701+16A>G | ENSP00000494026.1:n.*701+16A>G | |
| ENST00000643615.1:c.*1116+16A>G | ENSP00000496103.1:n.*1116+16A>G | |
| ENST00000643993.1:n.1252+16A>G | ||
| ENST00000643994.1:c.*1116+16A>G | ENSP00000496322.1:n.*1116+16A>G | |
| ENST00000644037.1:c.*1326+16A>G | ENSP00000496408.1:n.*1326+16A>G | |
| ENST00000644055.1:c.*1741+16A>G | ENSP00000496307.1:n.*1741+16A>G | |
| ENST00000644126.1:n.2788+16A>G | ||
| ENST00000644217.1:c.1116+16A>G | ENSP00000494646.1:n.1116+16A>G | |
| ENST00000644265.1:c.485+16A>G | ||
| ENST00000644578.1:c.930+16A>G | ENSP00000495953.1:n.930+16A>G | |
| ENST00000644604.1:c.1116+16A>G | ENSP00000495961.1:n.1116+16A>G | |
| ENST00000644680.1:c.*1637+16A>G | ENSP00000496173.1:n.*1637+16A>G | |
| ENST00000644838.1:c.*499+16A>G | ENSP00000495910.1:n.*499+16A>G | |
| ENST00000644910.1:c.1723+16A>G | ||
| ENST00000645205.1:c.1116+16A>G | ENSP00000495823.1:n.1116+16A>G | |
| ENST00000645351.1:c.1116+16A>G | ENSP00000494319.1:n.1116+16A>G | |
| ENST00000645551.1:c.*833+16A>G | ENSP00000495928.1:n.*833+16A>G | |
| ENST00000645578.1:c.*890+16A>G | ENSP00000496495.1:n.*890+16A>G | |
| ENST00000645582.1:c.*946+16A>G | ENSP00000494980.1:n.*946+16A>G | |
| ENST00000645655.1:c.1116+16A>G | ENSP00000495202.1:n.1116+16A>G | |
| ENST00000645662.1:c.*575+16A>G | ENSP00000495964.1:n.*575+16A>G | |
| ENST00000645836.1:c.*890+16A>G | ENSP00000493915.1:n.*890+16A>G | |
| ENST00000645899.1:c.1116+16A>G | ENSP00000496773.1:n.1116+16A>G | |
| ENST00000645964.1:c.*982+16A>G | ENSP00000494208.1:n.*982+16A>G | |
| ENST00000646104.1:c.*1584+16A>G | ENSP00000495475.1:n.*1584+16A>G | |
| ENST00000646186.1:c.*788+16A>G | ENSP00000493806.1:n.*788+16A>G | |
| ENST00000646286.1:c.*1009+16A>G | ENSP00000494291.1:n.*1009+16A>G | |
| ENST00000646463.1:c.*881+16A>G | ENSP00000494541.1:n.*881+16A>G | |
| ENST00000646528.1:c.*1832+16A>G | ENSP00000496553.1:n.*1832+16A>G | |
| ENST00000646536.1:c.*406+16A>G | ENSP00000494801.1:n.*406+16A>G | |
| ENST00000646624.1:c.1116+16A>G | ENSP00000494575.1:n.1116+16A>G | |
| ENST00000646821.1:c.*406+16A>G | ENSP00000495257.1:n.*406+16A>G | |
| ENST00000646842.1:n.560+16A>G | ||
| ENST00000646848.1:c.*331+16A>G | ENSP00000495831.1:n.*331+16A>G | |
| ENST00000647186.1:c.1116+16A>G | ENSP00000494775.1:n.1116+16A>G | |
| ENST00000647233.1:n.2096+16A>G | ||
| ENST00000647322.1:c.707+16A>G | ||
| ENST00000647418.1:c.*890+16A>G | ENSP00000493552.1:n.*890+16A>G | |
| ENST00000647428.1:c.777+16A>G | ENSP00000495630.1:n.777+16A>G | |
| ENST00000651186.1:c.777+16A>G | ENSP00000498645.1:n.777+16A>G | |
| ENST00000366601.7:c.1116+16A>G | ENSP00000355560.3:n.1116+16A>G | |
| ENST00000406207.4:c.1116+16A>G | ENSP00000384571.1:n.1116+16A>G | |
| ENST00000472011.5:n.1168+16A>G | ||
| ENST00000543662.3:c.1269+16A>G | ENSP00000439170.1:n.1269+16A>G | |
| NM_001079515.2:c.1116+16A>G | NP_001072983.1:n.1116+16A>G | |
| NM_001287801.1:c.1269+16A>G | NP_001274730.1:n.1269+16A>G | |
| NM_001287802.1:c.777+16A>G | NP_001274731.1:n.777+16A>G | |
| NM_003193.4:c.1116+16A>G | NP_003184.1:n.1116+16A>G | |
| NM_003193.5:c.1116+16A>G MANE Select | NP_003184.1:n.1116+16A>G | |
| NM_001079515.3:c.1116+16A>G | NP_001072983.1:n.1116+16A>G | |
| NM_001287801.2:c.1269+16A>G | NP_001274730.1:n.1269+16A>G | |
| NM_001287802.2:c.777+16A>G | NP_001274731.1:n.777+16A>G |