Linked Data
ClinVar Variation Id:
287890
dbSNP Id:
rs886043752
gnomAD v2:
15-42700408-G-A
gnomAD v3:
15-42408210-G-A
gnomAD v4:
15-42408210-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42408210G>A , CM000677.2:g.42408210G>A | GRCh38 |
| NC_000015.9:g.42700408G>A , CM000677.1:g.42700408G>A | GRCh37 |
| NC_000015.8:g.40487700G>A | NCBI36 |
| NG_008660.1:g.65108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.-81-1093G>A | ENSP00000336840.4:n.-81-1093G>A | |
| ENST00000349748.8:c.1639-1093G>A | ENSP00000183936.4:n.1639-1093G>A | |
| ENST00000357568.8:c.1783-1G>A | ENSP00000350181.3:n.1783-1G>A | |
| ENST00000397163.8:c.1801-1G>A MANE Select | ENSP00000380349.3:n.1801-1G>A | |
| ENST00000397204.9:c.-81-1093G>A | ENSP00000380387.4:n.-81-1093G>A | |
| ENST00000466369.5:n.2292-1G>A | ||
| ENST00000495723.1:n.2672-1G>A | ||
| ENST00000549793.5:n.2014-1G>A | ||
| ENST00000565173.2:n.175-1G>A | ||
| ENST00000569136.6:c.-195-1G>A | ENSP00000455254.1:n.-195-1G>A | |
| ENST00000638141.2:n.1654-1093G>A | ||
| ENST00000673646.1:c.365-1G>A | ENSP00000501007.1:n.365-1G>A | |
| ENST00000673692.1:c.-3-1577G>A | ENSP00000501138.1:n.-3-1577G>A | |
| ENST00000673705.1:c.310-1093G>A | ENSP00000501021.1:n.310-1093G>A | |
| ENST00000673743.1:c.-179+70G>A | ENSP00000500989.1:n.-179+70G>A | |
| ENST00000673750.1:c.-196G>A | ENSP00000501173.1:n.-196G>A | |
| ENST00000673771.1:c.-195-1G>A | ENSP00000501023.1:n.-195-1G>A | |
| ENST00000673839.1:c.-339-1G>A | ENSP00000501188.1:n.-339-1G>A | |
| ENST00000673851.1:c.-196G>A | ENSP00000501142.1:n.-196G>A | |
| ENST00000673854.1:n.4244G>A | ||
| ENST00000673886.1:c.-196G>A | ENSP00000501155.1:n.-196G>A | |
| ENST00000673890.1:c.-195-1G>A | ENSP00000501293.1:n.-195-1G>A | |
| ENST00000673928.1:c.-82+70G>A | ENSP00000501099.1:n.-82+70G>A | |
| ENST00000673936.1:c.-195-1G>A | ENSP00000501189.1:n.-195-1G>A | |
| ENST00000673939.1:c.-81-1093G>A | ENSP00000501129.1:n.-81-1093G>A | |
| ENST00000673978.1:c.-361-1G>A | ENSP00000500976.1:n.-361-1G>A | |
| ENST00000673987.1:c.-195-1G>A | ENSP00000501231.1:n.-195-1G>A | |
| ENST00000674011.1:c.-195-1G>A | ENSP00000501171.1:n.-195-1G>A | |
| ENST00000674012.1:n.76-1G>A | ||
| ENST00000674018.1:c.-196G>A | ENSP00000501271.1:n.-196G>A | |
| ENST00000674041.1:c.-81-1093G>A | ENSP00000500956.1:n.-81-1093G>A | |
| ENST00000674052.1:c.25-1G>A | ENSP00000501057.1:n.25-1G>A | |
| ENST00000674064.1:n.180-1G>A | ||
| ENST00000674093.1:c.-81-1093G>A | ENSP00000501303.1:n.-81-1093G>A | |
| ENST00000674119.1:c.-81-1093G>A | ENSP00000501217.1:n.-81-1093G>A | |
| ENST00000674135.1:c.-131-1G>A | ENSP00000501178.1:n.-131-1G>A | |
| ENST00000674139.1:c.-196G>A | ENSP00000501054.1:n.-196G>A | |
| ENST00000674140.1:n.951G>A | ||
| ENST00000674146.1:c.-196G>A | ENSP00000501175.1:n.-196G>A | |
| ENST00000674149.1:c.-196G>A | ENSP00000501112.1:n.-196G>A | |
| ENST00000318023.11:c.1657-1G>A | ENSP00000326281.8:n.1657-1G>A | |
| ENST00000337571.8:c.-81-1093G>A | ENSP00000336840.4:n.-81-1093G>A | |
| ENST00000349748.7:c.1639-1093G>A | ENSP00000183936.4:n.1639-1093G>A | |
| ENST00000356316.7:c.-90-1084G>A | ENSP00000348667.4:n.-90-1084G>A | |
| ENST00000357568.7:c.1783-1G>A | ENSP00000350181.3:n.1783-1G>A | |
| ENST00000397163.7:c.1801-1G>A | ENSP00000380349.3:n.1801-1G>A | |
| ENST00000397200.8:c.265-1G>A | ENSP00000380384.4:n.265-1G>A | |
| ENST00000397204.8:c.-81-1093G>A | ENSP00000380387.4:n.-81-1093G>A | |
| ENST00000561817.5:c.-81-1093G>A | ENSP00000456575.1:n.-81-1093G>A | |
| ENST00000565173.1:n.130-1G>A | ||
| ENST00000565274.5:c.13-1G>A | ENSP00000457759.1:n.13-1G>A | |
| ENST00000565559.5:c.-131-1G>A | ENSP00000457878.1:n.-131-1G>A | |
| ENST00000567071.5:c.260-1G>A | ||
| ENST00000569136.5:c.-195-1G>A | ENSP00000455254.1:n.-195-1G>A | |
| ENST00000569827.5:c.247-1093G>A | ENSP00000454379.1:n.247-1093G>A | |
| NM_000070.2:c.1801-1G>A | NP_000061.1:n.1801-1G>A | |
| NM_024344.1:c.1783-1G>A | NP_077320.1:n.1783-1G>A | |
| NM_173087.1:c.1639-1093G>A | NP_775110.1:n.1639-1093G>A | |
| NM_173088.1:c.265-1G>A | NP_775111.1:n.265-1G>A | |
| NM_173089.1:c.-81-1093G>A | NP_775112.1:n.-81-1093G>A | |
| NM_173090.1:c.-81-1093G>A | NP_775113.1:n.-81-1093G>A | |
| NM_000070.3:c.1801-1G>A MANE Select | NP_000061.1:n.1801-1G>A | |
| NM_024344.2:c.1783-1G>A | NP_077320.1:n.1783-1G>A | |
| NM_173087.2:c.1639-1093G>A | NP_775110.1:n.1639-1093G>A | |
| NM_173088.2:c.265-1G>A | NP_775111.1:n.265-1G>A | |
| NM_173089.2:c.-81-1093G>A | NP_775112.1:n.-81-1093G>A | |
| NM_173090.2:c.-81-1093G>A | NP_775113.1:n.-81-1093G>A |