Linked Data
ClinVar Variation Id:
1308069
dbSNP Id:
rs745679410
ExAC:
13:52513306 T / C
gnomAD v2:
13-52513306-T-C
gnomAD v3:
13-51939170-T-C
gnomAD v4:
13-51939170-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51939170T>C , CM000675.2:g.51939170T>C | GRCh38 |
| NC_000013.10:g.52513306T>C , CM000675.1:g.52513306T>C | GRCh37 |
| NC_000013.9:g.51411307T>C | NCBI36 |
| NG_008806.1:g.77325A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1230A>G | ENSP00000489512.2:n.*1230A>G | |
| ENST00000673864.2:c.*2324A>G | ENSP00000501045.2:n.*2324A>G | |
| ENST00000674147.2:c.2959A>G | ENSP00000500964.2:p.Ile987Val | |
| ENST00000242839.10:c.3580A>G MANE Select | ENSP00000242839.5:p.Ile1194Val | |
| ENST00000344297.9:c.2959A>G | ENSP00000342559.5:p.Ile987Val | |
| ENST00000400366.6:c.3247A>G | ENSP00000383217.3:p.Ile1083Val | |
| ENST00000448424.7:c.3328A>G | ENSP00000416738.3:p.Ile1110Val | |
| ENST00000673696.1:n.821A>G | ||
| ENST00000673772.1:c.3346A>G | ENSP00000501168.1:p.Ile1116Val | |
| ENST00000673867.1:n.3719A>G | ||
| ENST00000673923.1:n.446A>G | ||
| ENST00000674147.1:c.2515A>G | ENSP00000500964.1:p.Ile839Val | |
| ENST00000242839.8:c.3580A>G | ENSP00000242839.4:p.Ile1194Val | |
| ENST00000344297.8:c.2959A>G | ENSP00000342559.5:p.Ile987Val | |
| ENST00000400366.5:c.3247A>G | ENSP00000383217.3:p.Ile1083Val | |
| ENST00000400370.8:c.2290A>G | ENSP00000383221.3:p.Ile764Val | |
| ENST00000418097.7:c.3385A>G | ENSP00000393343.2:p.Ile1129Val | |
| ENST00000448424.6:c.3346A>G | ENSP00000416738.2:p.Ile1116Val | |
| ENST00000634296.1:c.1358A>G | ||
| ENST00000634308.1:c.*681A>G | ENSP00000489234.1:n.*681A>G | |
| ENST00000634620.1:n.4324A>G | ||
| ENST00000634810.1:n.2925A>G | ||
| ENST00000634844.1:c.3436A>G | ENSP00000489398.1:p.Ile1146Val | |
| NM_000053.3:c.3580A>G | NP_000044.2:p.Ile1194Val | |
| NM_001005918.2:c.2959A>G | NP_001005918.1:p.Ile987Val | |
| NM_001243182.1:c.3247A>G | NP_001230111.1:p.Ile1083Val | |
| XM_005266423.2:c.3484A>G | XP_005266480.1:p.Ile1162Val | |
| XM_005266424.3:c.3484A>G | XP_005266481.1:p.Ile1162Val | |
| XM_005266427.2:c.3346A>G | XP_005266484.1:p.Ile1116Val | |
| XM_005266428.1:c.3328A>G | XP_005266485.1:p.Ile1110Val | |
| XM_005266430.3:c.3580A>G | XP_005266487.1:p.Ile1194Val | |
| XM_005266431.2:c.3544A>G | XP_005266488.1:p.Ile1182Val | |
| XM_005266432.2:c.3094A>G | XP_005266489.1:p.Ile1032Val | |
| XM_006719837.2:c.3484A>G | XP_006719900.1:p.Ile1162Val | |
| XM_006719838.1:c.1396A>G | XP_006719901.1:p.Ile466Val | |
| XM_006719839.1:c.1213A>G | XP_006719902.1:p.Ile405Val | |
| XM_011535117.1:c.3484A>G | XP_011533419.1:p.Ile1162Val | |
| XM_011535118.1:c.3445A>G | XP_011533420.1:p.Ile1149Val | |
| XM_011535119.1:c.3397A>G | XP_011533421.1:p.Ile1133Val | |
| XM_011535120.1:c.3166A>G | XP_011533422.1:p.Ile1056Val | |
| XM_011535121.1:c.3067A>G | XP_011533423.1:p.Ile1023Val | |
| XM_011535122.1:c.2248A>G | XP_011533424.1:p.Ile750Val | |
| XR_941601.1:n.3799A>G | ||
| XR_941602.1:n.3799A>G | ||
| XR_941603.1:n.3799A>G | ||
| XR_941604.1:n.3799A>G | ||
| NM_001330578.1:c.3346A>G | NP_001317507.1:p.Ile1116Val | |
| NM_001330579.1:c.3328A>G | NP_001317508.1:p.Ile1110Val | |
| XM_005266424.4:c.3484A>G | XP_005266481.1:p.Ile1162Val | |
| XM_005266430.4:c.3580A>G | XP_005266487.1:p.Ile1194Val | |
| XM_005266431.4:c.3544A>G | XP_005266488.1:p.Ile1182Val | |
| XM_006719837.3:c.3484A>G | XP_006719900.1:p.Ile1162Val | |
| XM_011535117.3:c.3484A>G | XP_011533419.1:p.Ile1162Val | |
| XM_017020627.1:c.3484A>G | XP_016876116.1:p.Ile1162Val | |
| NM_000053.4:c.3580A>G MANE Select | NP_000044.2:p.Ile1194Val | |
| NM_001005918.3:c.2959A>G | NP_001005918.1:p.Ile987Val | |
| NM_001330579.2:c.3328A>G | NP_001317508.1:p.Ile1110Val | |
| NM_001243182.2:c.3247A>G | NP_001230111.1:p.Ile1083Val | |
| NM_001330578.2:c.3346A>G | NP_001317507.1:p.Ile1116Val |