Linked Data
ClinVar Variation Id:
990249
ClinVar RCV Id:
RCV001278232
dbSNP Id:
rs140425651
gnomAD v4:
15-42409951-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42409951G>C , CM000677.2:g.42409951G>C | GRCh38 |
| NC_000015.9:g.42702149G>C , CM000677.1:g.42702149G>C | GRCh37 |
| NC_000015.8:g.40489441G>C | NCBI36 |
| NG_008660.1:g.66849G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337571.9:c.76G>C | ENSP00000336840.4:p.Gly26Arg | |
| ENST00000349748.8:c.1795G>C | ENSP00000183936.4:p.Gly599Arg | |
| ENST00000357568.8:c.2053G>C | ENSP00000350181.3:p.Gly685Arg | |
| ENST00000397163.8:c.2071G>C MANE Select | ENSP00000380349.3:p.Gly691Arg | |
| ENST00000397204.9:c.76G>C | ENSP00000380387.4:p.Gly26Arg | |
| ENST00000466222.7:n.336G>C | ||
| ENST00000466369.5:n.2562G>C | ||
| ENST00000495723.1:n.2942G>C | ||
| ENST00000549793.5:n.2284G>C | ||
| ENST00000562199.2:c.79G>C | ENSP00000501034.1:p.Gly27Arg | |
| ENST00000569136.6:c.76G>C | ENSP00000455254.1:p.Gly26Arg | |
| ENST00000638141.2:n.1810G>C | ||
| ENST00000673646.1:c.635G>C | ENSP00000501007.1:n.635G>C | |
| ENST00000673687.1:n.148G>C | ||
| ENST00000673692.1:c.76G>C | ENSP00000501138.1:p.Gly26Arg | |
| ENST00000673705.1:c.466G>C | ENSP00000501021.1:n.466G>C | |
| ENST00000673743.1:c.-27G>C | ENSP00000500989.1:n.-27G>C | |
| ENST00000673750.1:c.76G>C | ENSP00000501173.1:p.Gly26Arg | |
| ENST00000673771.1:c.76G>C | ENSP00000501023.1:p.Gly26Arg | |
| ENST00000673774.1:n.772G>C | ||
| ENST00000673839.1:c.76G>C | ENSP00000501188.1:p.Gly26Arg | |
| ENST00000673851.1:c.76G>C | ENSP00000501142.1:p.Gly26Arg | |
| ENST00000673854.1:n.5493G>C | ||
| ENST00000673886.1:c.76G>C | ENSP00000501155.1:p.Gly26Arg | |
| ENST00000673890.1:c.76G>C | ENSP00000501293.1:p.Gly26Arg | |
| ENST00000673928.1:c.76G>C | ENSP00000501099.1:p.Gly26Arg | |
| ENST00000673936.1:c.76G>C | ENSP00000501189.1:p.Gly26Arg | |
| ENST00000673939.1:c.76G>C | ENSP00000501129.1:p.Gly26Arg | |
| ENST00000673950.1:n.345G>C | ||
| ENST00000673978.1:c.214G>C | ENSP00000500976.1:p.Gly72Arg | |
| ENST00000673987.1:c.76G>C | ENSP00000501231.1:p.Gly26Arg | |
| ENST00000674011.1:c.76G>C | ENSP00000501171.1:p.Gly26Arg | |
| ENST00000674018.1:c.76G>C | ENSP00000501271.1:p.Gly26Arg | |
| ENST00000674027.1:n.131G>C | ||
| ENST00000674041.1:c.76G>C | ENSP00000500956.1:p.Gly26Arg | |
| ENST00000674052.1:c.295G>C | ENSP00000501057.1:p.Gly99Arg | |
| ENST00000674093.1:c.76G>C | ENSP00000501303.1:p.Gly26Arg | |
| ENST00000674119.1:c.76G>C | ENSP00000501217.1:p.Gly26Arg | |
| ENST00000674130.1:n.289G>C | ||
| ENST00000674135.1:c.253G>C | ENSP00000501178.1:p.Gly85Arg | |
| ENST00000674139.1:c.76G>C | ENSP00000501054.1:p.Gly26Arg | |
| ENST00000674146.1:c.76G>C | ENSP00000501175.1:p.Gly26Arg | |
| ENST00000674149.1:c.76G>C | ENSP00000501112.1:p.Gly26Arg | |
| ENST00000318023.11:c.1927G>C | ENSP00000326281.8:p.Gly643Arg | |
| ENST00000337571.8:c.76G>C | ENSP00000336840.4:p.Gly26Arg | |
| ENST00000349748.7:c.1795G>C | ENSP00000183936.4:p.Gly599Arg | |
| ENST00000356316.7:c.76G>C | ENSP00000348667.4:p.Gly26Arg | |
| ENST00000357568.7:c.2053G>C | ENSP00000350181.3:p.Gly685Arg | |
| ENST00000397163.7:c.2071G>C | ENSP00000380349.3:p.Gly691Arg | |
| ENST00000397200.8:c.535G>C | ENSP00000380384.4:p.Gly179Arg | |
| ENST00000397204.8:c.76G>C | ENSP00000380387.4:p.Gly26Arg | |
| ENST00000466222.6:n.994G>C | ||
| ENST00000561817.5:c.76G>C | ENSP00000456575.1:p.Gly26Arg | |
| ENST00000562199.1:n.79G>C | ||
| ENST00000564503.5:c.168G>C | ||
| ENST00000565274.5:c.283G>C | ENSP00000457759.1:p.Gly95Arg | |
| ENST00000565559.5:c.253G>C | ENSP00000457878.1:p.Gly85Arg | |
| ENST00000567071.5:c.551G>C | ||
| ENST00000569136.5:c.76G>C | ENSP00000455254.1:p.Gly26Arg | |
| ENST00000569827.5:c.403G>C | ENSP00000454379.1:p.Gly135Arg | |
| NM_000070.2:c.2071G>C | NP_000061.1:p.Gly691Arg | |
| NM_024344.1:c.2053G>C | NP_077320.1:p.Gly685Arg | |
| NM_173087.1:c.1795G>C | NP_775110.1:p.Gly599Arg | |
| NM_173088.1:c.535G>C | NP_775111.1:p.Gly179Arg | |
| NM_173089.1:c.76G>C | NP_775112.1:p.Gly26Arg | |
| NM_173090.1:c.76G>C | NP_775113.1:p.Gly26Arg | |
| NM_000070.3:c.2071G>C MANE Select | NP_000061.1:p.Gly691Arg | |
| NM_024344.2:c.2053G>C | NP_077320.1:p.Gly685Arg | |
| NM_173087.2:c.1795G>C | NP_775110.1:p.Gly599Arg | |
| NM_173088.2:c.535G>C | NP_775111.1:p.Gly179Arg | |
| NM_173089.2:c.76G>C | NP_775112.1:p.Gly26Arg | |
| NM_173090.2:c.76G>C | NP_775113.1:p.Gly26Arg |