Linked Data
ClinVar Variation Id:
17613
dbSNP Id:
rs80338802
ExAC:
15:42703124 G / A
gnomAD v2:
15-42703124-G-A
gnomAD v3:
15-42410926-G-A
gnomAD v4:
15-42410926-G-A
COSMIC:
COSM1135659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42410926G>A , CM000677.2:g.42410926G>A | GRCh38 |
| NC_000015.9:g.42703124G>A , CM000677.1:g.42703124G>A | GRCh37 |
| NC_000015.8:g.40490416G>A | NCBI36 |
| NG_008660.1:g.67824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.311G>A | ENSP00000336840.4:p.Arg104Gln | |
| ENST00000349748.8:c.2030G>A | ENSP00000183936.4:p.Arg677Gln | |
| ENST00000357568.8:c.2288G>A | ENSP00000350181.3:p.Arg763Gln | |
| ENST00000397163.8:c.2306G>A MANE Select | ENSP00000380349.3:p.Arg769Gln | |
| ENST00000397204.9:c.311G>A | ENSP00000380387.4:p.Arg104Gln | |
| ENST00000466222.7:n.751G>A | ||
| ENST00000466369.5:n.2797G>A | ||
| ENST00000495723.1:n.3177G>A | ||
| ENST00000549793.5:n.2519G>A | ||
| ENST00000562199.2:c.310G>A | ENSP00000501034.1:p.Gly104Ser | |
| ENST00000567817.6:c.95G>A | ENSP00000456514.2:p.Arg32Gln | |
| ENST00000568153.2:c.172G>A | ||
| ENST00000569136.6:c.311G>A | ENSP00000455254.1:p.Arg104Gln | |
| ENST00000638141.2:n.2045G>A | ||
| ENST00000673646.1:c.870G>A | ENSP00000501007.1:n.870G>A | |
| ENST00000673684.1:n.288G>A | ||
| ENST00000673692.1:c.311G>A | ENSP00000501138.1:p.Arg104Gln | |
| ENST00000673705.1:c.849G>A | ENSP00000501021.1:n.849G>A | |
| ENST00000673743.1:c.209G>A | ENSP00000500989.1:p.Arg70Gln | |
| ENST00000673750.1:c.311G>A | ENSP00000501173.1:p.Arg104Gln | |
| ENST00000673771.1:c.311G>A | ENSP00000501023.1:p.Arg104Gln | |
| ENST00000673774.1:n.1439G>A | ||
| ENST00000673839.1:c.311G>A | ENSP00000501188.1:p.Arg104Gln | |
| ENST00000673851.1:c.311G>A | ENSP00000501142.1:p.Arg104Gln | |
| ENST00000673854.1:n.5728G>A | ||
| ENST00000673886.1:c.311G>A | ENSP00000501155.1:p.Arg104Gln | |
| ENST00000673890.1:c.311G>A | ENSP00000501293.1:p.Arg104Gln | |
| ENST00000673928.1:c.311G>A | ENSP00000501099.1:p.Arg104Gln | |
| ENST00000673936.1:c.311G>A | ENSP00000501189.1:p.Arg104Gln | |
| ENST00000673939.1:c.*100G>A | ENSP00000501129.1:n.*100G>A | |
| ENST00000673950.1:n.580G>A | ||
| ENST00000673978.1:c.449G>A | ENSP00000500976.1:p.Arg150Gln | |
| ENST00000673987.1:c.*100G>A | ENSP00000501231.1:n.*100G>A | |
| ENST00000674011.1:c.*100G>A | ENSP00000501171.1:n.*100G>A | |
| ENST00000674018.1:c.311G>A | ENSP00000501271.1:p.Arg104Gln | |
| ENST00000674027.1:n.457G>A | ||
| ENST00000674041.1:c.311G>A | ENSP00000500956.1:p.Arg104Gln | |
| ENST00000674052.1:c.530G>A | ENSP00000501057.1:p.Arg177Gln | |
| ENST00000674093.1:c.311G>A | ENSP00000501303.1:p.Arg104Gln | |
| ENST00000674119.1:c.311G>A | ENSP00000501217.1:p.Arg104Gln | |
| ENST00000674135.1:c.488G>A | ENSP00000501178.1:p.Arg163Gln | |
| ENST00000674139.1:c.311G>A | ENSP00000501054.1:p.Arg104Gln | |
| ENST00000674146.1:c.311G>A | ENSP00000501175.1:p.Arg104Gln | |
| ENST00000674149.1:c.311G>A | ENSP00000501112.1:p.Arg104Gln | |
| ENST00000318023.11:c.2162G>A | ENSP00000326281.8:p.Arg721Gln | |
| ENST00000337571.8:c.311G>A | ENSP00000336840.4:p.Arg104Gln | |
| ENST00000349748.7:c.2030G>A | ENSP00000183936.4:p.Arg677Gln | |
| ENST00000356316.7:c.311G>A | ENSP00000348667.4:p.Arg104Gln | |
| ENST00000357568.7:c.2288G>A | ENSP00000350181.3:p.Arg763Gln | |
| ENST00000397163.7:c.2306G>A | ENSP00000380349.3:p.Arg769Gln | |
| ENST00000397200.8:c.770G>A | ENSP00000380384.4:p.Arg257Gln | |
| ENST00000397204.8:c.311G>A | ENSP00000380387.4:p.Arg104Gln | |
| ENST00000466222.6:n.1229G>A | ||
| ENST00000561817.5:c.311G>A | ENSP00000456575.1:p.Arg104Gln | |
| ENST00000562199.1:n.310G>A | ||
| ENST00000564503.5:c.349G>A | ||
| ENST00000565274.5:c.484G>A | ENSP00000457759.1:n.484G>A | |
| ENST00000567817.5:c.122G>A | ENSP00000456514.1:p.Arg41Gln | |
| ENST00000568153.1:c.43G>A | ||
| ENST00000569136.5:c.311G>A | ENSP00000455254.1:p.Arg104Gln | |
| ENST00000569827.5:c.638G>A | ENSP00000454379.1:p.Arg213Gln | |
| NM_000070.2:c.2306G>A | NP_000061.1:p.Arg769Gln | |
| NM_024344.1:c.2288G>A | NP_077320.1:p.Arg763Gln | |
| NM_173087.1:c.2030G>A | NP_775110.1:p.Arg677Gln | |
| NM_173088.1:c.770G>A | NP_775111.1:p.Arg257Gln | |
| NM_173089.1:c.311G>A | NP_775112.1:p.Arg104Gln | |
| NM_173090.1:c.311G>A | NP_775113.1:p.Arg104Gln | |
| NM_000070.3:c.2306G>A MANE Select | NP_000061.1:p.Arg769Gln | |
| NM_024344.2:c.2288G>A | NP_077320.1:p.Arg763Gln | |
| NM_173087.2:c.2030G>A | NP_775110.1:p.Arg677Gln | |
| NM_173088.2:c.770G>A | NP_775111.1:p.Arg257Gln | |
| NM_173089.2:c.311G>A | NP_775112.1:p.Arg104Gln | |
| NM_173090.2:c.311G>A | NP_775113.1:p.Arg104Gln |