Linked Data
ClinVar Variation Id:
286218
dbSNP Id:
rs201607149
ExAC:
15:42700450 G / C
gnomAD v2:
15-42700450-G-C
gnomAD v3:
15-42408252-G-C
gnomAD v4:
15-42408252-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42408252G>C , CM000677.2:g.42408252G>C | GRCh38 |
| NC_000015.9:g.42700450G>C , CM000677.1:g.42700450G>C | GRCh37 |
| NC_000015.8:g.40487742G>C | NCBI36 |
| NG_008660.1:g.65150G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.-81-1051G>C | ENSP00000336840.4:n.-81-1051G>C | |
| ENST00000349748.8:c.1639-1051G>C | ENSP00000183936.4:n.1639-1051G>C | |
| ENST00000357568.8:c.1824G>C | ENSP00000350181.3:p.Glu608Asp | |
| ENST00000397163.8:c.1842G>C MANE Select | ENSP00000380349.3:p.Glu614Asp | |
| ENST00000397204.9:c.-81-1051G>C | ENSP00000380387.4:n.-81-1051G>C | |
| ENST00000466369.5:n.2333G>C | ||
| ENST00000495723.1:n.2713G>C | ||
| ENST00000549793.5:n.2055G>C | ||
| ENST00000565173.2:n.216G>C | ||
| ENST00000569136.6:c.-154G>C | ENSP00000455254.1:n.-154G>C | |
| ENST00000638141.2:n.1654-1051G>C | ||
| ENST00000673646.1:c.406G>C | ENSP00000501007.1:n.406G>C | |
| ENST00000673692.1:c.-3-1535G>C | ENSP00000501138.1:n.-3-1535G>C | |
| ENST00000673705.1:c.310-1051G>C | ENSP00000501021.1:n.310-1051G>C | |
| ENST00000673743.1:c.-179+112G>C | ENSP00000500989.1:n.-179+112G>C | |
| ENST00000673750.1:c.-154G>C | ENSP00000501173.1:n.-154G>C | |
| ENST00000673771.1:c.-154G>C | ENSP00000501023.1:n.-154G>C | |
| ENST00000673839.1:c.-298G>C | ENSP00000501188.1:n.-298G>C | |
| ENST00000673851.1:c.-154G>C | ENSP00000501142.1:n.-154G>C | |
| ENST00000673854.1:n.4286G>C | ||
| ENST00000673886.1:c.-154G>C | ENSP00000501155.1:n.-154G>C | |
| ENST00000673890.1:c.-154G>C | ENSP00000501293.1:n.-154G>C | |
| ENST00000673928.1:c.-82+112G>C | ENSP00000501099.1:n.-82+112G>C | |
| ENST00000673936.1:c.-154G>C | ENSP00000501189.1:n.-154G>C | |
| ENST00000673939.1:c.-81-1051G>C | ENSP00000501129.1:n.-81-1051G>C | |
| ENST00000673978.1:c.-320G>C | ENSP00000500976.1:n.-320G>C | |
| ENST00000673987.1:c.-154G>C | ENSP00000501231.1:n.-154G>C | |
| ENST00000674011.1:c.-154G>C | ENSP00000501171.1:n.-154G>C | |
| ENST00000674012.1:n.117G>C | ||
| ENST00000674018.1:c.-154G>C | ENSP00000501271.1:n.-154G>C | |
| ENST00000674041.1:c.-81-1051G>C | ENSP00000500956.1:n.-81-1051G>C | |
| ENST00000674052.1:c.66G>C | ENSP00000501057.1:p.Glu22Asp | |
| ENST00000674064.1:n.221G>C | ||
| ENST00000674093.1:c.-81-1051G>C | ENSP00000501303.1:n.-81-1051G>C | |
| ENST00000674119.1:c.-81-1051G>C | ENSP00000501217.1:n.-81-1051G>C | |
| ENST00000674135.1:c.-90G>C | ENSP00000501178.1:n.-90G>C | |
| ENST00000674139.1:c.-154G>C | ENSP00000501054.1:n.-154G>C | |
| ENST00000674140.1:n.993G>C | ||
| ENST00000674146.1:c.-154G>C | ENSP00000501175.1:n.-154G>C | |
| ENST00000674149.1:c.-154G>C | ENSP00000501112.1:n.-154G>C | |
| ENST00000318023.11:c.1698G>C | ENSP00000326281.8:p.Glu566Asp | |
| ENST00000337571.8:c.-81-1051G>C | ENSP00000336840.4:n.-81-1051G>C | |
| ENST00000349748.7:c.1639-1051G>C | ENSP00000183936.4:n.1639-1051G>C | |
| ENST00000356316.7:c.-90-1042G>C | ENSP00000348667.4:n.-90-1042G>C | |
| ENST00000357568.7:c.1824G>C | ENSP00000350181.3:p.Glu608Asp | |
| ENST00000397163.7:c.1842G>C | ENSP00000380349.3:p.Glu614Asp | |
| ENST00000397200.8:c.306G>C | ENSP00000380384.4:p.Glu102Asp | |
| ENST00000397204.8:c.-81-1051G>C | ENSP00000380387.4:n.-81-1051G>C | |
| ENST00000561817.5:c.-81-1051G>C | ENSP00000456575.1:n.-81-1051G>C | |
| ENST00000565173.1:n.171G>C | ||
| ENST00000565274.5:c.54G>C | ENSP00000457759.1:p.Glu18Asp | |
| ENST00000565559.5:c.-90G>C | ENSP00000457878.1:n.-90G>C | |
| ENST00000567071.5:c.301G>C | ||
| ENST00000569136.5:c.-154G>C | ENSP00000455254.1:n.-154G>C | |
| ENST00000569827.5:c.247-1051G>C | ENSP00000454379.1:n.247-1051G>C | |
| NM_000070.2:c.1842G>C | NP_000061.1:p.Glu614Asp | |
| NM_024344.1:c.1824G>C | NP_077320.1:p.Glu608Asp | |
| NM_173087.1:c.1639-1051G>C | NP_775110.1:n.1639-1051G>C | |
| NM_173088.1:c.306G>C | NP_775111.1:p.Glu102Asp | |
| NM_173089.1:c.-81-1051G>C | NP_775112.1:n.-81-1051G>C | |
| NM_173090.1:c.-81-1051G>C | NP_775113.1:n.-81-1051G>C | |
| NM_000070.3:c.1842G>C MANE Select | NP_000061.1:p.Glu614Asp | |
| NM_024344.2:c.1824G>C | NP_077320.1:p.Glu608Asp | |
| NM_173087.2:c.1639-1051G>C | NP_775110.1:n.1639-1051G>C | |
| NM_173088.2:c.306G>C | NP_775111.1:p.Glu102Asp | |
| NM_173089.2:c.-81-1051G>C | NP_775112.1:n.-81-1051G>C | |
| NM_173090.2:c.-81-1051G>C | NP_775113.1:n.-81-1051G>C |