Linked Data
ClinVar Variation Id:
1685251
ClinVar RCV Id:
RCV002248978
dbSNP Id:
rs121907990
ExAC:
13:52511706 T / A
gnomAD v2:
13-52511706-T-A
gnomAD v3:
13-51937570-T-A
gnomAD v4:
13-51937570-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937570T>A , CM000675.2:g.51937570T>A | GRCh38 |
| NC_000013.10:g.52511706T>A , CM000675.1:g.52511706T>A | GRCh37 |
| NC_000013.9:g.51409707T>A | NCBI36 |
| NG_008806.1:g.78925A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000634296.2:c.*1459A>T | ENSP00000489512.2:n.*1459A>T | |
| ENST00000673864.2:c.*2553A>T | ENSP00000501045.2:n.*2553A>T | |
| ENST00000674147.2:c.3188A>T | ENSP00000500964.2:p.Asn1063Ile | |
| ENST00000242839.10:c.3809A>T MANE Select | ENSP00000242839.5:p.Asn1270Ile | |
| ENST00000344297.9:c.3188A>T | ENSP00000342559.5:p.Asn1063Ile | |
| ENST00000400366.6:c.3476A>T | ENSP00000383217.3:p.Asn1159Ile | |
| ENST00000448424.7:c.3557A>T | ENSP00000416738.3:p.Asn1186Ile | |
| ENST00000673696.1:n.1050A>T | ||
| ENST00000673772.1:c.3575A>T | ENSP00000501168.1:p.Asn1192Ile | |
| ENST00000673867.1:n.3948A>T | ||
| ENST00000673923.1:n.675A>T | ||
| ENST00000674147.1:c.2744A>T | ENSP00000500964.1:p.Asn915Ile | |
| ENST00000242839.8:c.3809A>T | ENSP00000242839.4:p.Asn1270Ile | |
| ENST00000344297.8:c.3188A>T | ENSP00000342559.5:p.Asn1063Ile | |
| ENST00000400366.5:c.3476A>T | ENSP00000383217.3:p.Asn1159Ile | |
| ENST00000400370.8:c.2519A>T | ENSP00000383221.3:p.Asn840Ile | |
| ENST00000418097.7:c.3614A>T | ENSP00000393343.2:p.Asn1205Ile | |
| ENST00000448424.6:c.3575A>T | ENSP00000416738.2:p.Asn1192Ile | |
| ENST00000634296.1:c.1587A>T | ||
| ENST00000634308.1:c.*910A>T | ENSP00000489234.1:n.*910A>T | |
| ENST00000634620.1:n.4553A>T | ||
| ENST00000634810.1:n.3154A>T | ||
| ENST00000634844.1:c.3665A>T | ENSP00000489398.1:p.Asn1222Ile | |
| NM_000053.3:c.3809A>T | NP_000044.2:p.Asn1270Ile | |
| NM_001005918.2:c.3188A>T | NP_001005918.1:p.Asn1063Ile | |
| NM_001243182.1:c.3476A>T | NP_001230111.1:p.Asn1159Ile | |
| XM_005266423.2:c.3713A>T | XP_005266480.1:p.Asn1238Ile | |
| XM_005266424.3:c.3713A>T | XP_005266481.1:p.Asn1238Ile | |
| XM_005266427.2:c.3575A>T | XP_005266484.1:p.Asn1192Ile | |
| XM_005266428.1:c.3557A>T | XP_005266485.1:p.Asn1186Ile | |
| XM_005266430.3:c.3809A>T | XP_005266487.1:p.Asn1270Ile | |
| XM_005266431.2:c.3773A>T | XP_005266488.1:p.Asn1258Ile | |
| XM_005266432.2:c.3323A>T | XP_005266489.1:p.Asn1108Ile | |
| XM_006719837.2:c.3713A>T | XP_006719900.1:p.Asn1238Ile | |
| XM_006719838.1:c.1625A>T | XP_006719901.1:p.Asn542Ile | |
| XM_006719839.1:c.1442A>T | XP_006719902.1:p.Asn481Ile | |
| XM_011535117.1:c.3713A>T | XP_011533419.1:p.Asn1238Ile | |
| XM_011535118.1:c.3674A>T | XP_011533420.1:p.Asn1225Ile | |
| XM_011535119.1:c.3626A>T | XP_011533421.1:p.Asn1209Ile | |
| XM_011535120.1:c.3395A>T | XP_011533422.1:p.Asn1132Ile | |
| XM_011535121.1:c.3296A>T | XP_011533423.1:p.Asn1099Ile | |
| XM_011535122.1:c.2477A>T | XP_011533424.1:p.Asn826Ile | |
| XR_941601.1:n.4028A>T | ||
| XR_941602.1:n.4028A>T | ||
| XR_941603.1:n.4028A>T | ||
| XR_941604.1:n.4028A>T | ||
| NM_001330578.1:c.3575A>T | NP_001317507.1:p.Asn1192Ile | |
| NM_001330579.1:c.3557A>T | NP_001317508.1:p.Asn1186Ile | |
| XM_005266424.4:c.3713A>T | XP_005266481.1:p.Asn1238Ile | |
| XM_005266430.4:c.3809A>T | XP_005266487.1:p.Asn1270Ile | |
| XM_005266431.4:c.3773A>T | XP_005266488.1:p.Asn1258Ile | |
| XM_006719837.3:c.3713A>T | XP_006719900.1:p.Asn1238Ile | |
| XM_011535117.3:c.3713A>T | XP_011533419.1:p.Asn1238Ile | |
| XM_017020627.1:c.3713A>T | XP_016876116.1:p.Asn1238Ile | |
| NM_000053.4:c.3809A>T MANE Select | NP_000044.2:p.Asn1270Ile | |
| NM_001005918.3:c.3188A>T | NP_001005918.1:p.Asn1063Ile | |
| NM_001330579.2:c.3557A>T | NP_001317508.1:p.Asn1186Ile | |
| NM_001243182.2:c.3476A>T | NP_001230111.1:p.Asn1159Ile | |
| NM_001330578.2:c.3575A>T | NP_001317507.1:p.Asn1192Ile |