Linked Data
ClinVar Variation Id:
386708
dbSNP Id:
rs373081328
ExAC:
13:52516529 T / C
gnomAD v2:
13-52516529-T-C
gnomAD v3:
13-51942393-T-C
gnomAD v4:
13-51942393-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942393T>C , CM000675.2:g.51942393T>C | GRCh38 |
| NC_000013.10:g.52516529T>C , CM000675.1:g.52516529T>C | GRCh37 |
| NC_000013.9:g.51414530T>C | NCBI36 |
| NG_008806.1:g.74102A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1055A>G | ENSP00000489512.2:n.*1055A>G | |
| ENST00000673864.2:c.*2149A>G | ENSP00000501045.2:n.*2149A>G | |
| ENST00000674147.2:c.2784A>G | ENSP00000500964.2:p.Ala928= | |
| ENST00000242839.10:c.3405A>G MANE Select | ENSP00000242839.5:p.Ala1135= | |
| ENST00000344297.9:c.2784A>G | ENSP00000342559.5:p.Ala928= | |
| ENST00000400366.6:c.3072A>G | ENSP00000383217.3:p.Ala1024= | |
| ENST00000448424.7:c.3153A>G | ENSP00000416738.3:p.Ala1051= | |
| ENST00000673772.1:c.3171A>G | ENSP00000501168.1:p.Ala1057= | |
| ENST00000673867.1:n.3544A>G | ||
| ENST00000674126.1:n.3768A>G | ||
| ENST00000674147.1:c.2340A>G | ENSP00000500964.1:p.Ala780= | |
| ENST00000242839.8:c.3405A>G | ENSP00000242839.4:p.Ala1135= | |
| ENST00000344297.8:c.2784A>G | ENSP00000342559.5:p.Ala928= | |
| ENST00000400366.5:c.3072A>G | ENSP00000383217.3:p.Ala1024= | |
| ENST00000400370.8:c.2115A>G | ENSP00000383221.3:p.Ala705= | |
| ENST00000418097.7:c.3210A>G | ENSP00000393343.2:p.Ala1070= | |
| ENST00000448424.6:c.3171A>G | ENSP00000416738.2:p.Ala1057= | |
| ENST00000634296.1:c.1183A>G | ||
| ENST00000634308.1:c.*506A>G | ENSP00000489234.1:n.*506A>G | |
| ENST00000634620.1:n.4149A>G | ||
| ENST00000634810.1:n.2750A>G | ||
| ENST00000634844.1:c.3261A>G | ENSP00000489398.1:p.Ala1087= | |
| NM_000053.3:c.3405A>G | NP_000044.2:p.Ala1135= | |
| NM_001005918.2:c.2784A>G | NP_001005918.1:p.Ala928= | |
| NM_001243182.1:c.3072A>G | NP_001230111.1:p.Ala1024= | |
| XM_005266423.2:c.3309A>G | XP_005266480.1:p.Ala1103= | |
| XM_005266424.3:c.3309A>G | XP_005266481.1:p.Ala1103= | |
| XM_005266427.2:c.3171A>G | XP_005266484.1:p.Ala1057= | |
| XM_005266428.1:c.3153A>G | XP_005266485.1:p.Ala1051= | |
| XM_005266430.3:c.3405A>G | XP_005266487.1:p.Ala1135= | |
| XM_005266431.2:c.3369A>G | XP_005266488.1:p.Ala1123= | |
| XM_005266432.2:c.2919A>G | XP_005266489.1:p.Ala973= | |
| XM_006719837.2:c.3309A>G | XP_006719900.1:p.Ala1103= | |
| XM_006719838.1:c.1221A>G | XP_006719901.1:p.Ala407= | |
| XM_006719839.1:c.1038A>G | XP_006719902.1:p.Ala346= | |
| XM_011535117.1:c.3309A>G | XP_011533419.1:p.Ala1103= | |
| XM_011535118.1:c.3270A>G | XP_011533420.1:p.Ala1090= | |
| XM_011535119.1:c.3222A>G | XP_011533421.1:p.Ala1074= | |
| XM_011535120.1:c.2991A>G | XP_011533422.1:p.Ala997= | |
| XM_011535121.1:c.2892A>G | XP_011533423.1:p.Ala964= | |
| XM_011535122.1:c.2073A>G | XP_011533424.1:p.Ala691= | |
| XR_941601.1:n.3624A>G | ||
| XR_941602.1:n.3624A>G | ||
| XR_941603.1:n.3624A>G | ||
| XR_941604.1:n.3624A>G | ||
| NM_001330578.1:c.3171A>G | NP_001317507.1:p.Ala1057= | |
| NM_001330579.1:c.3153A>G | NP_001317508.1:p.Ala1051= | |
| XM_005266424.4:c.3309A>G | XP_005266481.1:p.Ala1103= | |
| XM_005266430.4:c.3405A>G | XP_005266487.1:p.Ala1135= | |
| XM_005266431.4:c.3369A>G | XP_005266488.1:p.Ala1123= | |
| XM_006719837.3:c.3309A>G | XP_006719900.1:p.Ala1103= | |
| XM_011535117.3:c.3309A>G | XP_011533419.1:p.Ala1103= | |
| XM_017020627.1:c.3309A>G | XP_016876116.1:p.Ala1103= | |
| NM_000053.4:c.3405A>G MANE Select | NP_000044.2:p.Ala1135= | |
| NM_001005918.3:c.2784A>G | NP_001005918.1:p.Ala928= | |
| NM_001330579.2:c.3153A>G | NP_001317508.1:p.Ala1051= | |
| NM_001243182.2:c.3072A>G | NP_001230111.1:p.Ala1024= | |
| NM_001330578.2:c.3171A>G | NP_001317507.1:p.Ala1057= |