Linked Data
ClinVar Variation Id:
1521931
ClinVar RCV Id:
RCV002034165
dbSNP Id:
rs377586515
ExAC:
13:52518328 T / C
gnomAD v2:
13-52518328-T-C
gnomAD v4:
13-51944192-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51944192T>C , CM000675.2:g.51944192T>C | GRCh38 |
| NC_000013.10:g.52518328T>C , CM000675.1:g.52518328T>C | GRCh37 |
| NC_000013.9:g.51416329T>C | NCBI36 |
| NG_008806.1:g.72303A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*894-1638A>G | ENSP00000489512.2:n.*894-1638A>G | |
| ENST00000673864.2:c.*1904A>G | ENSP00000501045.2:n.*1904A>G | |
| ENST00000674147.2:c.2539A>G | ENSP00000500964.2:p.Arg847Gly | |
| ENST00000242839.10:c.3160A>G MANE Select | ENSP00000242839.5:p.Arg1054Gly | |
| ENST00000344297.9:c.2539A>G | ENSP00000342559.5:p.Arg847Gly | |
| ENST00000400366.6:c.2827A>G | ENSP00000383217.3:p.Arg943Gly | |
| ENST00000448424.7:c.2908A>G | ENSP00000416738.3:p.Arg970Gly | |
| ENST00000673772.1:c.2926A>G | ENSP00000501168.1:p.Arg976Gly | |
| ENST00000673867.1:n.3299A>G | ||
| ENST00000674126.1:n.3523A>G | ||
| ENST00000674147.1:c.2095A>G | ENSP00000500964.1:p.Arg699Gly | |
| ENST00000242839.8:c.3160A>G | ENSP00000242839.4:p.Arg1054Gly | |
| ENST00000344297.8:c.2539A>G | ENSP00000342559.5:p.Arg847Gly | |
| ENST00000400366.5:c.2827A>G | ENSP00000383217.3:p.Arg943Gly | |
| ENST00000400370.8:c.1870A>G | ENSP00000383221.3:p.Arg624Gly | |
| ENST00000418097.7:c.2965A>G | ENSP00000393343.2:p.Arg989Gly | |
| ENST00000448424.6:c.2926A>G | ENSP00000416738.2:p.Arg976Gly | |
| ENST00000466629.1:n.380A>G | ||
| ENST00000634296.1:c.1022-1638A>G | ||
| ENST00000634308.1:c.*261A>G | ENSP00000489234.1:n.*261A>G | |
| ENST00000634620.1:n.3904A>G | ||
| ENST00000634810.1:n.2505A>G | ||
| ENST00000634844.1:c.3016A>G | ENSP00000489398.1:p.Arg1006Gly | |
| ENST00000635406.1:n.506A>G | ||
| NM_000053.3:c.3160A>G | NP_000044.2:p.Arg1054Gly | |
| NM_001005918.2:c.2539A>G | NP_001005918.1:p.Arg847Gly | |
| NM_001243182.1:c.2827A>G | NP_001230111.1:p.Arg943Gly | |
| XM_005266423.2:c.3064A>G | XP_005266480.1:p.Arg1022Gly | |
| XM_005266424.3:c.3064A>G | XP_005266481.1:p.Arg1022Gly | |
| XM_005266427.2:c.2926A>G | XP_005266484.1:p.Arg976Gly | |
| XM_005266428.1:c.2908A>G | XP_005266485.1:p.Arg970Gly | |
| XM_005266430.3:c.3160A>G | XP_005266487.1:p.Arg1054Gly | |
| XM_005266431.2:c.3124A>G | XP_005266488.1:p.Arg1042Gly | |
| XM_005266432.2:c.2674A>G | XP_005266489.1:p.Arg892Gly | |
| XM_006719837.2:c.3064A>G | XP_006719900.1:p.Arg1022Gly | |
| XM_006719838.1:c.976A>G | XP_006719901.1:p.Arg326Gly | |
| XM_006719839.1:c.877-1638A>G | XP_006719902.1:n.877-1638A>G | |
| XM_011535117.1:c.3064A>G | XP_011533419.1:p.Arg1022Gly | |
| XM_011535118.1:c.3025A>G | XP_011533420.1:p.Arg1009Gly | |
| XM_011535119.1:c.3061-1638A>G | XP_011533421.1:n.3061-1638A>G | |
| XM_011535120.1:c.2746A>G | XP_011533422.1:p.Arg916Gly | |
| XM_011535121.1:c.2731-1638A>G | XP_011533423.1:n.2731-1638A>G | |
| XM_011535122.1:c.1828A>G | XP_011533424.1:p.Arg610Gly | |
| XR_941601.1:n.3379A>G | ||
| XR_941602.1:n.3379A>G | ||
| XR_941603.1:n.3379A>G | ||
| XR_941604.1:n.3379A>G | ||
| NM_001330578.1:c.2926A>G | NP_001317507.1:p.Arg976Gly | |
| NM_001330579.1:c.2908A>G | NP_001317508.1:p.Arg970Gly | |
| XM_005266424.4:c.3064A>G | XP_005266481.1:p.Arg1022Gly | |
| XM_005266430.4:c.3160A>G | XP_005266487.1:p.Arg1054Gly | |
| XM_005266431.4:c.3124A>G | XP_005266488.1:p.Arg1042Gly | |
| XM_006719837.3:c.3064A>G | XP_006719900.1:p.Arg1022Gly | |
| XM_011535117.3:c.3064A>G | XP_011533419.1:p.Arg1022Gly | |
| XM_017020627.1:c.3064A>G | XP_016876116.1:p.Arg1022Gly | |
| NM_000053.4:c.3160A>G MANE Select | NP_000044.2:p.Arg1054Gly | |
| NM_001005918.3:c.2539A>G | NP_001005918.1:p.Arg847Gly | |
| NM_001330579.2:c.2908A>G | NP_001317508.1:p.Arg970Gly | |
| NM_001243182.2:c.2827A>G | NP_001230111.1:p.Arg943Gly | |
| NM_001330578.2:c.2926A>G | NP_001317507.1:p.Arg976Gly |