Linked Data
ClinVar Variation Id:
1653508
ClinVar RCV Id:
RCV002161173
dbSNP Id:
rs1461573235
gnomAD v2:
13-52532558-C-G
gnomAD v3:
13-51958422-C-G
gnomAD v4:
13-51958422-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51958422C>G , CM000675.2:g.51958422C>G | GRCh38 |
| NC_000013.10:g.52532558C>G , CM000675.1:g.52532558C>G | GRCh37 |
| NC_000013.9:g.51430559C>G | NCBI36 |
| NG_008806.1:g.58073G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*77G>C | ENSP00000489512.2:n.*77G>C | |
| ENST00000673864.2:c.*988G>C | ENSP00000501045.2:n.*988G>C | |
| ENST00000674147.2:c.1870-815G>C | ENSP00000500964.2:n.1870-815G>C | |
| ENST00000242839.10:c.2244G>C MANE Select | ENSP00000242839.5:p.Leu748= | |
| ENST00000344297.9:c.1870-815G>C | ENSP00000342559.5:n.1870-815G>C | |
| ENST00000400366.6:c.1911G>C | ENSP00000383217.3:p.Leu637= | |
| ENST00000448424.7:c.1992G>C | ENSP00000416738.3:p.Leu664= | |
| ENST00000673772.1:c.2122-815G>C | ENSP00000501168.1:n.2122-815G>C | |
| ENST00000674147.1:c.1426-815G>C | ENSP00000500964.1:n.1426-815G>C | |
| ENST00000242839.8:c.2244G>C | ENSP00000242839.4:p.Leu748= | |
| ENST00000344297.8:c.1870-815G>C | ENSP00000342559.5:n.1870-815G>C | |
| ENST00000400366.5:c.1911G>C | ENSP00000383217.3:p.Leu637= | |
| ENST00000400370.8:c.1286-8261G>C | ENSP00000383221.3:n.1286-8261G>C | |
| ENST00000418097.7:c.2244G>C | ENSP00000393343.2:p.Leu748= | |
| ENST00000448424.6:c.2122-815G>C | ENSP00000416738.2:n.2122-815G>C | |
| ENST00000482841.6:n.1787G>C | ||
| ENST00000634296.1:c.205G>C | ||
| ENST00000634308.1:c.2122-815G>C | ENSP00000489234.1:n.2122-815G>C | |
| ENST00000634620.1:n.2339G>C | ||
| ENST00000634810.1:n.1589G>C | ||
| ENST00000634844.1:c.2122-22G>C | ENSP00000489398.1:n.2122-22G>C | |
| ENST00000635406.1:n.212-11944G>C | ||
| NM_000053.3:c.2244G>C | NP_000044.2:p.Leu748= | |
| NM_001005918.2:c.1870-815G>C | NP_001005918.1:n.1870-815G>C | |
| NM_001243182.1:c.1911G>C | NP_001230111.1:p.Leu637= | |
| XM_005266423.2:c.2148G>C | XP_005266480.1:p.Leu716= | |
| XM_005266424.3:c.2148G>C | XP_005266481.1:p.Leu716= | |
| XM_005266427.2:c.2122-815G>C | XP_005266484.1:n.2122-815G>C | |
| XM_005266428.1:c.1992G>C | XP_005266485.1:p.Leu664= | |
| XM_005266430.3:c.2244G>C | XP_005266487.1:p.Leu748= | |
| XM_005266431.2:c.2208G>C | XP_005266488.1:p.Leu736= | |
| XM_005266432.2:c.1870-815G>C | XP_005266489.1:n.1870-815G>C | |
| XM_006719837.2:c.2148G>C | XP_006719900.1:p.Leu716= | |
| XM_006719838.1:c.60G>C | XP_006719901.1:p.Leu20= | |
| XM_006719839.1:c.60G>C | XP_006719902.1:p.Leu20= | |
| XM_011535117.1:c.2148G>C | XP_011533419.1:p.Leu716= | |
| XM_011535118.1:c.2244G>C | XP_011533420.1:p.Leu748= | |
| XM_011535119.1:c.2244G>C | XP_011533421.1:p.Leu748= | |
| XM_011535120.1:c.1830G>C | XP_011533422.1:p.Leu610= | |
| XM_011535121.1:c.2244G>C | XP_011533423.1:p.Leu748= | |
| XM_011535122.1:c.912G>C | XP_011533424.1:p.Leu304= | |
| XR_941601.1:n.2463G>C | ||
| XR_941602.1:n.2463G>C | ||
| XR_941603.1:n.2463G>C | ||
| XR_941604.1:n.2463G>C | ||
| NM_001330578.1:c.2122-815G>C | NP_001317507.1:n.2122-815G>C | |
| NM_001330579.1:c.1992G>C | NP_001317508.1:p.Leu664= | |
| XM_005266424.4:c.2148G>C | XP_005266481.1:p.Leu716= | |
| XM_005266430.4:c.2244G>C | XP_005266487.1:p.Leu748= | |
| XM_005266431.4:c.2208G>C | XP_005266488.1:p.Leu736= | |
| XM_006719837.3:c.2148G>C | XP_006719900.1:p.Leu716= | |
| XM_011535117.3:c.2148G>C | XP_011533419.1:p.Leu716= | |
| XM_017020627.1:c.2148G>C | XP_016876116.1:p.Leu716= | |
| NM_000053.4:c.2244G>C MANE Select | NP_000044.2:p.Leu748= | |
| NM_001005918.3:c.1870-815G>C | NP_001005918.1:n.1870-815G>C | |
| NM_001330579.2:c.1992G>C | NP_001317508.1:p.Leu664= | |
| NM_001243182.2:c.1911G>C | NP_001230111.1:p.Leu637= | |
| NM_001330578.2:c.2122-815G>C | NP_001317507.1:n.2122-815G>C |