Linked Data
ClinVar Variation Id:
312377
dbSNP Id:
rs368801566
gnomAD v2:
13-52509105-C-G
gnomAD v3:
13-51934969-C-G
gnomAD v4:
13-51934969-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51934969C>G , CM000675.2:g.51934969C>G | GRCh38 |
| NC_000013.10:g.52509105C>G , CM000675.1:g.52509105C>G | GRCh37 |
| NC_000013.9:g.51407106C>G | NCBI36 |
| NG_008806.1:g.81526G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1835G>C | ENSP00000489512.2:n.*1835G>C | |
| ENST00000673864.2:c.*2929G>C | ENSP00000501045.2:n.*2929G>C | |
| ENST00000674147.2:c.3564G>C | ENSP00000500964.2:p.Leu1188= | |
| ENST00000242839.10:c.4185G>C MANE Select | ENSP00000242839.5:p.Leu1395= | |
| ENST00000344297.9:c.3564G>C | ENSP00000342559.5:p.Leu1188= | |
| ENST00000400366.6:c.3852G>C | ENSP00000383217.3:p.Leu1284= | |
| ENST00000448424.7:c.3933G>C | ENSP00000416738.3:p.Leu1311= | |
| ENST00000673696.1:n.1508G>C | ||
| ENST00000673772.1:c.3951G>C | ENSP00000501168.1:p.Leu1317= | |
| ENST00000673867.1:n.4324G>C | ||
| ENST00000673923.1:n.1051G>C | ||
| ENST00000674147.1:c.3120G>C | ENSP00000500964.1:p.Leu1040= | |
| ENST00000242839.8:c.4185G>C | ENSP00000242839.4:p.Leu1395= | |
| ENST00000344297.8:c.3564G>C | ENSP00000342559.5:p.Leu1188= | |
| ENST00000400366.5:c.3852G>C | ENSP00000383217.3:p.Leu1284= | |
| ENST00000400370.8:c.2895G>C | ENSP00000383221.3:p.Leu965= | |
| ENST00000418097.7:c.3990G>C | ENSP00000393343.2:p.Leu1330= | |
| ENST00000448424.6:c.3951G>C | ENSP00000416738.2:p.Leu1317= | |
| ENST00000634296.1:c.1963G>C | ||
| ENST00000634308.1:c.*1286G>C | ENSP00000489234.1:n.*1286G>C | |
| ENST00000634620.1:n.4929G>C | ||
| ENST00000634810.1:n.3530G>C | ||
| ENST00000634844.1:c.4041G>C | ENSP00000489398.1:p.Leu1347= | |
| NM_000053.3:c.4185G>C | NP_000044.2:p.Leu1395= | |
| NM_001005918.2:c.3564G>C | NP_001005918.1:p.Leu1188= | |
| NM_001243182.1:c.3852G>C | NP_001230111.1:p.Leu1284= | |
| XM_005266423.2:c.4089G>C | XP_005266480.1:p.Leu1363= | |
| XM_005266424.3:c.4089G>C | XP_005266481.1:p.Leu1363= | |
| XM_005266427.2:c.3951G>C | XP_005266484.1:p.Leu1317= | |
| XM_005266428.1:c.3933G>C | XP_005266485.1:p.Leu1311= | |
| XM_005266430.3:c.4185G>C | XP_005266487.1:p.Leu1395= | |
| XM_005266431.2:c.4149G>C | XP_005266488.1:p.Leu1383= | |
| XM_005266432.2:c.3699G>C | XP_005266489.1:p.Leu1233= | |
| XM_006719837.2:c.4089G>C | XP_006719900.1:p.Leu1363= | |
| XM_006719838.1:c.2001G>C | XP_006719901.1:p.Leu667= | |
| XM_006719839.1:c.1818G>C | XP_006719902.1:p.Leu606= | |
| XM_011535117.1:c.4089G>C | XP_011533419.1:p.Leu1363= | |
| XM_011535118.1:c.4050G>C | XP_011533420.1:p.Leu1350= | |
| XM_011535119.1:c.4002G>C | XP_011533421.1:p.Leu1334= | |
| XM_011535120.1:c.3771G>C | XP_011533422.1:p.Leu1257= | |
| XM_011535121.1:c.3672G>C | XP_011533423.1:p.Leu1224= | |
| XM_011535122.1:c.2853G>C | XP_011533424.1:p.Leu951= | |
| XR_941601.1:n.4404G>C | ||
| XR_941602.1:n.4404G>C | ||
| XR_941603.1:n.4404G>C | ||
| XR_941604.1:n.4404G>C | ||
| NM_001330578.1:c.3951G>C | NP_001317507.1:p.Leu1317= | |
| NM_001330579.1:c.3933G>C | NP_001317508.1:p.Leu1311= | |
| XM_005266424.4:c.4089G>C | XP_005266481.1:p.Leu1363= | |
| XM_005266430.4:c.4185G>C | XP_005266487.1:p.Leu1395= | |
| XM_005266431.4:c.4149G>C | XP_005266488.1:p.Leu1383= | |
| XM_006719837.3:c.4089G>C | XP_006719900.1:p.Leu1363= | |
| XM_011535117.3:c.4089G>C | XP_011533419.1:p.Leu1363= | |
| XM_017020627.1:c.4089G>C | XP_016876116.1:p.Leu1363= | |
| NM_000053.4:c.4185G>C MANE Select | NP_000044.2:p.Leu1395= | |
| NM_001005918.3:c.3564G>C | NP_001005918.1:p.Leu1188= | |
| NM_001330579.2:c.3933G>C | NP_001317508.1:p.Leu1311= | |
| NM_001243182.2:c.3852G>C | NP_001230111.1:p.Leu1284= | |
| NM_001330578.2:c.3951G>C | NP_001317507.1:p.Leu1317= |