Linked Data
ClinVar Variation Id:
157955
ClinVar RCV Id:
RCV000145280
dbSNP Id:
rs587783317
ExAC:
13:52511412 C / T
gnomAD v2:
13-52511412-C-T
gnomAD v3:
13-51937276-C-T
gnomAD v4:
13-51937276-C-T
COSMIC:
COSM1725750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51937276C>T , CM000675.2:g.51937276C>T | GRCh38 |
| NC_000013.10:g.52511412C>T , CM000675.1:g.52511412C>T | GRCh37 |
| NC_000013.9:g.51409413C>T | NCBI36 |
| NG_008806.1:g.79219G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*1671G>A | ENSP00000489512.2:n.*1671G>A | |
| ENST00000673864.2:c.*2765G>A | ENSP00000501045.2:n.*2765G>A | |
| ENST00000674147.2:c.3400G>A | ENSP00000500964.2:p.Gly1134Ser | |
| ENST00000242839.10:c.4021G>A MANE Select | ENSP00000242839.5:p.Gly1341Ser | |
| ENST00000344297.9:c.3400G>A | ENSP00000342559.5:p.Gly1134Ser | |
| ENST00000400366.6:c.3688G>A | ENSP00000383217.3:p.Gly1230Ser | |
| ENST00000448424.7:c.3769G>A | ENSP00000416738.3:p.Gly1257Ser | |
| ENST00000673696.1:n.1344G>A | ||
| ENST00000673772.1:c.3787G>A | ENSP00000501168.1:p.Gly1263Ser | |
| ENST00000673867.1:n.4160G>A | ||
| ENST00000673923.1:n.887G>A | ||
| ENST00000674147.1:c.2956G>A | ENSP00000500964.1:p.Gly986Ser | |
| ENST00000242839.8:c.4021G>A | ENSP00000242839.4:p.Gly1341Ser | |
| ENST00000344297.8:c.3400G>A | ENSP00000342559.5:p.Gly1134Ser | |
| ENST00000400366.5:c.3688G>A | ENSP00000383217.3:p.Gly1230Ser | |
| ENST00000400370.8:c.2731G>A | ENSP00000383221.3:p.Gly911Ser | |
| ENST00000418097.7:c.3826G>A | ENSP00000393343.2:p.Gly1276Ser | |
| ENST00000448424.6:c.3787G>A | ENSP00000416738.2:p.Gly1263Ser | |
| ENST00000634296.1:c.1799G>A | ||
| ENST00000634308.1:c.*1122G>A | ENSP00000489234.1:n.*1122G>A | |
| ENST00000634620.1:n.4765G>A | ||
| ENST00000634810.1:n.3366G>A | ||
| ENST00000634844.1:c.3877G>A | ENSP00000489398.1:p.Gly1293Ser | |
| NM_000053.3:c.4021G>A | NP_000044.2:p.Gly1341Ser | |
| NM_001005918.2:c.3400G>A | NP_001005918.1:p.Gly1134Ser | |
| NM_001243182.1:c.3688G>A | NP_001230111.1:p.Gly1230Ser | |
| XM_005266423.2:c.3925G>A | XP_005266480.1:p.Gly1309Ser | |
| XM_005266424.3:c.3925G>A | XP_005266481.1:p.Gly1309Ser | |
| XM_005266427.2:c.3787G>A | XP_005266484.1:p.Gly1263Ser | |
| XM_005266428.1:c.3769G>A | XP_005266485.1:p.Gly1257Ser | |
| XM_005266430.3:c.4021G>A | XP_005266487.1:p.Gly1341Ser | |
| XM_005266431.2:c.3985G>A | XP_005266488.1:p.Gly1329Ser | |
| XM_005266432.2:c.3535G>A | XP_005266489.1:p.Gly1179Ser | |
| XM_006719837.2:c.3925G>A | XP_006719900.1:p.Gly1309Ser | |
| XM_006719838.1:c.1837G>A | XP_006719901.1:p.Gly613Ser | |
| XM_006719839.1:c.1654G>A | XP_006719902.1:p.Gly552Ser | |
| XM_011535117.1:c.3925G>A | XP_011533419.1:p.Gly1309Ser | |
| XM_011535118.1:c.3886G>A | XP_011533420.1:p.Gly1296Ser | |
| XM_011535119.1:c.3838G>A | XP_011533421.1:p.Gly1280Ser | |
| XM_011535120.1:c.3607G>A | XP_011533422.1:p.Gly1203Ser | |
| XM_011535121.1:c.3508G>A | XP_011533423.1:p.Gly1170Ser | |
| XM_011535122.1:c.2689G>A | XP_011533424.1:p.Gly897Ser | |
| XR_941601.1:n.4240G>A | ||
| XR_941602.1:n.4240G>A | ||
| XR_941603.1:n.4240G>A | ||
| XR_941604.1:n.4240G>A | ||
| NM_001330578.1:c.3787G>A | NP_001317507.1:p.Gly1263Ser | |
| NM_001330579.1:c.3769G>A | NP_001317508.1:p.Gly1257Ser | |
| XM_005266424.4:c.3925G>A | XP_005266481.1:p.Gly1309Ser | |
| XM_005266430.4:c.4021G>A | XP_005266487.1:p.Gly1341Ser | |
| XM_005266431.4:c.3985G>A | XP_005266488.1:p.Gly1329Ser | |
| XM_006719837.3:c.3925G>A | XP_006719900.1:p.Gly1309Ser | |
| XM_011535117.3:c.3925G>A | XP_011533419.1:p.Gly1309Ser | |
| XM_017020627.1:c.3925G>A | XP_016876116.1:p.Gly1309Ser | |
| NM_000053.4:c.4021G>A MANE Select | NP_000044.2:p.Gly1341Ser | |
| NM_001005918.3:c.3400G>A | NP_001005918.1:p.Gly1134Ser | |
| NM_001330579.2:c.3769G>A | NP_001317508.1:p.Gly1257Ser | |
| NM_001243182.2:c.3688G>A | NP_001230111.1:p.Gly1230Ser | |
| NM_001330578.2:c.3787G>A | NP_001317507.1:p.Gly1263Ser |