Linked Data
ClinVar Variation Id:
2825665
ClinVar RCV Id:
RCV003610372
MyVariant Identifiers:
chr13:g.52516646T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51942510T>G , CM000675.2:g.51942510T>G | GRCh38 |
| NC_000013.10:g.52516646T>G , CM000675.1:g.52516646T>G | GRCh37 |
| NC_000013.9:g.51414647T>G | NCBI36 |
| NG_008806.1:g.73985A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*938A>C | ENSP00000489512.2:n.*938A>C | |
| ENST00000673864.2:c.*2032A>C | ENSP00000501045.2:n.*2032A>C | |
| ENST00000674147.2:c.2667A>C | ENSP00000500964.2:p.Ala889= | |
| ENST00000242839.10:c.3288A>C MANE Select | ENSP00000242839.5:p.Ala1096= | |
| ENST00000344297.9:c.2667A>C | ENSP00000342559.5:p.Ala889= | |
| ENST00000400366.6:c.2955A>C | ENSP00000383217.3:p.Ala985= | |
| ENST00000448424.7:c.3036A>C | ENSP00000416738.3:p.Ala1012= | |
| ENST00000673772.1:c.3054A>C | ENSP00000501168.1:p.Ala1018= | |
| ENST00000673867.1:n.3427A>C | ||
| ENST00000674126.1:n.3651A>C | ||
| ENST00000674147.1:c.2223A>C | ENSP00000500964.1:p.Ala741= | |
| ENST00000242839.8:c.3288A>C | ENSP00000242839.4:p.Ala1096= | |
| ENST00000344297.8:c.2667A>C | ENSP00000342559.5:p.Ala889= | |
| ENST00000400366.5:c.2955A>C | ENSP00000383217.3:p.Ala985= | |
| ENST00000400370.8:c.1998A>C | ENSP00000383221.3:p.Ala666= | |
| ENST00000418097.7:c.3093A>C | ENSP00000393343.2:p.Ala1031= | |
| ENST00000448424.6:c.3054A>C | ENSP00000416738.2:p.Ala1018= | |
| ENST00000634296.1:c.1066A>C | ||
| ENST00000634308.1:c.*389A>C | ENSP00000489234.1:n.*389A>C | |
| ENST00000634620.1:n.4032A>C | ||
| ENST00000634810.1:n.2633A>C | ||
| ENST00000634844.1:c.3144A>C | ENSP00000489398.1:p.Ala1048= | |
| NM_000053.3:c.3288A>C | NP_000044.2:p.Ala1096= | |
| NM_001005918.2:c.2667A>C | NP_001005918.1:p.Ala889= | |
| NM_001243182.1:c.2955A>C | NP_001230111.1:p.Ala985= | |
| XM_005266423.2:c.3192A>C | XP_005266480.1:p.Ala1064= | |
| XM_005266424.3:c.3192A>C | XP_005266481.1:p.Ala1064= | |
| XM_005266427.2:c.3054A>C | XP_005266484.1:p.Ala1018= | |
| XM_005266428.1:c.3036A>C | XP_005266485.1:p.Ala1012= | |
| XM_005266430.3:c.3288A>C | XP_005266487.1:p.Ala1096= | |
| XM_005266431.2:c.3252A>C | XP_005266488.1:p.Ala1084= | |
| XM_005266432.2:c.2802A>C | XP_005266489.1:p.Ala934= | |
| XM_006719837.2:c.3192A>C | XP_006719900.1:p.Ala1064= | |
| XM_006719838.1:c.1104A>C | XP_006719901.1:p.Ala368= | |
| XM_006719839.1:c.921A>C | XP_006719902.1:p.Ala307= | |
| XM_011535117.1:c.3192A>C | XP_011533419.1:p.Ala1064= | |
| XM_011535118.1:c.3153A>C | XP_011533420.1:p.Ala1051= | |
| XM_011535119.1:c.3105A>C | XP_011533421.1:p.Ala1035= | |
| XM_011535120.1:c.2874A>C | XP_011533422.1:p.Ala958= | |
| XM_011535121.1:c.2775A>C | XP_011533423.1:p.Ala925= | |
| XM_011535122.1:c.1956A>C | XP_011533424.1:p.Ala652= | |
| XR_941601.1:n.3507A>C | ||
| XR_941602.1:n.3507A>C | ||
| XR_941603.1:n.3507A>C | ||
| XR_941604.1:n.3507A>C | ||
| NM_001330578.1:c.3054A>C | NP_001317507.1:p.Ala1018= | |
| NM_001330579.1:c.3036A>C | NP_001317508.1:p.Ala1012= | |
| XM_005266424.4:c.3192A>C | XP_005266481.1:p.Ala1064= | |
| XM_005266430.4:c.3288A>C | XP_005266487.1:p.Ala1096= | |
| XM_005266431.4:c.3252A>C | XP_005266488.1:p.Ala1084= | |
| XM_006719837.3:c.3192A>C | XP_006719900.1:p.Ala1064= | |
| XM_011535117.3:c.3192A>C | XP_011533419.1:p.Ala1064= | |
| XM_017020627.1:c.3192A>C | XP_016876116.1:p.Ala1064= | |
| NM_000053.4:c.3288A>C MANE Select | NP_000044.2:p.Ala1096= | |
| NM_001005918.3:c.2667A>C | NP_001005918.1:p.Ala889= | |
| NM_001330579.2:c.3036A>C | NP_001317508.1:p.Ala1012= | |
| NM_001243182.2:c.2955A>C | NP_001230111.1:p.Ala985= | |
| NM_001330578.2:c.3054A>C | NP_001317507.1:p.Ala1018= |