Linked Data
ClinVar Variation Id:
3013514
ClinVar RCV Id:
RCV003870609
MyVariant Identifiers:
chr13:g.52520510G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946374G>T , CM000675.2:g.51946374G>T | GRCh38 |
| NC_000013.10:g.52520510G>T , CM000675.1:g.52520510G>T | GRCh37 |
| NC_000013.9:g.51418511G>T | NCBI36 |
| NG_008806.1:g.70121C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*803C>A | ENSP00000489512.2:n.*803C>A | |
| ENST00000673864.2:c.*1714C>A | ENSP00000501045.2:n.*1714C>A | |
| ENST00000674147.2:c.2349C>A | ENSP00000500964.2:p.Ala783= | |
| ENST00000242839.10:c.2970C>A MANE Select | ENSP00000242839.5:p.Ala990= | |
| ENST00000344297.9:c.2349C>A | ENSP00000342559.5:p.Ala783= | |
| ENST00000400366.6:c.2637C>A | ENSP00000383217.3:p.Ala879= | |
| ENST00000448424.7:c.2718C>A | ENSP00000416738.3:p.Ala906= | |
| ENST00000673772.1:c.2736C>A | ENSP00000501168.1:p.Ala912= | |
| ENST00000673867.1:n.1117C>A | ||
| ENST00000674126.1:n.3333C>A | ||
| ENST00000674147.1:c.1905C>A | ENSP00000500964.1:p.Ala635= | |
| ENST00000242839.8:c.2970C>A | ENSP00000242839.4:p.Ala990= | |
| ENST00000344297.8:c.2349C>A | ENSP00000342559.5:p.Ala783= | |
| ENST00000400366.5:c.2637C>A | ENSP00000383217.3:p.Ala879= | |
| ENST00000400370.8:c.1680C>A | ENSP00000383221.3:p.Ala560= | |
| ENST00000418097.7:c.2866-2083C>A | ENSP00000393343.2:n.2866-2083C>A | |
| ENST00000448424.6:c.2736C>A | ENSP00000416738.2:p.Ala912= | |
| ENST00000466629.1:n.190C>A | ||
| ENST00000634296.1:c.931C>A | ||
| ENST00000634308.1:c.*71C>A | ENSP00000489234.1:n.*71C>A | |
| ENST00000634620.1:n.3714C>A | ||
| ENST00000634810.1:n.2315C>A | ||
| ENST00000634844.1:c.2826C>A | ENSP00000489398.1:p.Ala942= | |
| ENST00000635406.1:n.316C>A | ||
| NM_000053.3:c.2970C>A | NP_000044.2:p.Ala990= | |
| NM_001005918.2:c.2349C>A | NP_001005918.1:p.Ala783= | |
| NM_001243182.1:c.2637C>A | NP_001230111.1:p.Ala879= | |
| XM_005266423.2:c.2874C>A | XP_005266480.1:p.Ala958= | |
| XM_005266424.3:c.2874C>A | XP_005266481.1:p.Ala958= | |
| XM_005266427.2:c.2736C>A | XP_005266484.1:p.Ala912= | |
| XM_005266428.1:c.2718C>A | XP_005266485.1:p.Ala906= | |
| XM_005266430.3:c.2970C>A | XP_005266487.1:p.Ala990= | |
| XM_005266431.2:c.2934C>A | XP_005266488.1:p.Ala978= | |
| XM_005266432.2:c.2484C>A | XP_005266489.1:p.Ala828= | |
| XM_006719837.2:c.2874C>A | XP_006719900.1:p.Ala958= | |
| XM_006719838.1:c.786C>A | XP_006719901.1:p.Ala262= | |
| XM_006719839.1:c.786C>A | XP_006719902.1:p.Ala262= | |
| XM_011535117.1:c.2874C>A | XP_011533419.1:p.Ala958= | |
| XM_011535118.1:c.2835C>A | XP_011533420.1:p.Ala945= | |
| XM_011535119.1:c.2970C>A | XP_011533421.1:p.Ala990= | |
| XM_011535120.1:c.2556C>A | XP_011533422.1:p.Ala852= | |
| XM_011535121.1:c.2730+3633C>A | XP_011533423.1:n.2730+3633C>A | |
| XM_011535122.1:c.1638C>A | XP_011533424.1:p.Ala546= | |
| XR_941601.1:n.3189C>A | ||
| XR_941602.1:n.3189C>A | ||
| XR_941603.1:n.3189C>A | ||
| XR_941604.1:n.3189C>A | ||
| NM_001330578.1:c.2736C>A | NP_001317507.1:p.Ala912= | |
| NM_001330579.1:c.2718C>A | NP_001317508.1:p.Ala906= | |
| XM_005266424.4:c.2874C>A | XP_005266481.1:p.Ala958= | |
| XM_005266430.4:c.2970C>A | XP_005266487.1:p.Ala990= | |
| XM_005266431.4:c.2934C>A | XP_005266488.1:p.Ala978= | |
| XM_006719837.3:c.2874C>A | XP_006719900.1:p.Ala958= | |
| XM_011535117.3:c.2874C>A | XP_011533419.1:p.Ala958= | |
| XM_017020627.1:c.2874C>A | XP_016876116.1:p.Ala958= | |
| NM_000053.4:c.2970C>A MANE Select | NP_000044.2:p.Ala990= | |
| NM_001005918.3:c.2349C>A | NP_001005918.1:p.Ala783= | |
| NM_001330579.2:c.2718C>A | NP_001317508.1:p.Ala906= | |
| NM_001243182.2:c.2637C>A | NP_001230111.1:p.Ala879= | |
| NM_001330578.2:c.2736C>A | NP_001317507.1:p.Ala912= |