Linked Data
ClinVar Variation Id:
792553
ClinVar RCV Id:
RCV001415815
dbSNP Id:
rs758641148
ExAC:
13:52520495 G / A
gnomAD v2:
13-52520495-G-A
gnomAD v4:
13-51946359-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946359G>A , CM000675.2:g.51946359G>A | GRCh38 |
| NC_000013.10:g.52520495G>A , CM000675.1:g.52520495G>A | GRCh37 |
| NC_000013.9:g.51418496G>A | NCBI36 |
| NG_008806.1:g.70136C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*818C>T | ENSP00000489512.2:n.*818C>T | |
| ENST00000673864.2:c.*1729C>T | ENSP00000501045.2:n.*1729C>T | |
| ENST00000674147.2:c.2364C>T | ENSP00000500964.2:p.Val788= | |
| ENST00000242839.10:c.2985C>T MANE Select | ENSP00000242839.5:p.Val995= | |
| ENST00000344297.9:c.2364C>T | ENSP00000342559.5:p.Val788= | |
| ENST00000400366.6:c.2652C>T | ENSP00000383217.3:p.Val884= | |
| ENST00000448424.7:c.2733C>T | ENSP00000416738.3:p.Val911= | |
| ENST00000673772.1:c.2751C>T | ENSP00000501168.1:p.Val917= | |
| ENST00000673867.1:n.1132C>T | ||
| ENST00000674126.1:n.3348C>T | ||
| ENST00000674147.1:c.1920C>T | ENSP00000500964.1:p.Val640= | |
| ENST00000242839.8:c.2985C>T | ENSP00000242839.4:p.Val995= | |
| ENST00000344297.8:c.2364C>T | ENSP00000342559.5:p.Val788= | |
| ENST00000400366.5:c.2652C>T | ENSP00000383217.3:p.Val884= | |
| ENST00000400370.8:c.1695C>T | ENSP00000383221.3:p.Val565= | |
| ENST00000418097.7:c.2866-2068C>T | ENSP00000393343.2:n.2866-2068C>T | |
| ENST00000448424.6:c.2751C>T | ENSP00000416738.2:p.Val917= | |
| ENST00000466629.1:n.205C>T | ||
| ENST00000634296.1:c.946C>T | ||
| ENST00000634308.1:c.*86C>T | ENSP00000489234.1:n.*86C>T | |
| ENST00000634620.1:n.3729C>T | ||
| ENST00000634810.1:n.2330C>T | ||
| ENST00000634844.1:c.2841C>T | ENSP00000489398.1:p.Val947= | |
| ENST00000635406.1:n.331C>T | ||
| NM_000053.3:c.2985C>T | NP_000044.2:p.Val995= | |
| NM_001005918.2:c.2364C>T | NP_001005918.1:p.Val788= | |
| NM_001243182.1:c.2652C>T | NP_001230111.1:p.Val884= | |
| XM_005266423.2:c.2889C>T | XP_005266480.1:p.Val963= | |
| XM_005266424.3:c.2889C>T | XP_005266481.1:p.Val963= | |
| XM_005266427.2:c.2751C>T | XP_005266484.1:p.Val917= | |
| XM_005266428.1:c.2733C>T | XP_005266485.1:p.Val911= | |
| XM_005266430.3:c.2985C>T | XP_005266487.1:p.Val995= | |
| XM_005266431.2:c.2949C>T | XP_005266488.1:p.Val983= | |
| XM_005266432.2:c.2499C>T | XP_005266489.1:p.Val833= | |
| XM_006719837.2:c.2889C>T | XP_006719900.1:p.Val963= | |
| XM_006719838.1:c.801C>T | XP_006719901.1:p.Val267= | |
| XM_006719839.1:c.801C>T | XP_006719902.1:p.Val267= | |
| XM_011535117.1:c.2889C>T | XP_011533419.1:p.Val963= | |
| XM_011535118.1:c.2850C>T | XP_011533420.1:p.Val950= | |
| XM_011535119.1:c.2985C>T | XP_011533421.1:p.Val995= | |
| XM_011535120.1:c.2571C>T | XP_011533422.1:p.Val857= | |
| XM_011535121.1:c.2730+3648C>T | XP_011533423.1:n.2730+3648C>T | |
| XM_011535122.1:c.1653C>T | XP_011533424.1:p.Val551= | |
| XR_941601.1:n.3204C>T | ||
| XR_941602.1:n.3204C>T | ||
| XR_941603.1:n.3204C>T | ||
| XR_941604.1:n.3204C>T | ||
| NM_001330578.1:c.2751C>T | NP_001317507.1:p.Val917= | |
| NM_001330579.1:c.2733C>T | NP_001317508.1:p.Val911= | |
| XM_005266424.4:c.2889C>T | XP_005266481.1:p.Val963= | |
| XM_005266430.4:c.2985C>T | XP_005266487.1:p.Val995= | |
| XM_005266431.4:c.2949C>T | XP_005266488.1:p.Val983= | |
| XM_006719837.3:c.2889C>T | XP_006719900.1:p.Val963= | |
| XM_011535117.3:c.2889C>T | XP_011533419.1:p.Val963= | |
| XM_017020627.1:c.2889C>T | XP_016876116.1:p.Val963= | |
| NM_000053.4:c.2985C>T MANE Select | NP_000044.2:p.Val995= | |
| NM_001005918.3:c.2364C>T | NP_001005918.1:p.Val788= | |
| NM_001330579.2:c.2733C>T | NP_001317508.1:p.Val911= | |
| NM_001243182.2:c.2652C>T | NP_001230111.1:p.Val884= | |
| NM_001330578.2:c.2751C>T | NP_001317507.1:p.Val917= |