Linked Data
ClinVar Variation Id:
35710
dbSNP Id:
rs72552255
ExAC:
13:52520550 G / A
gnomAD v2:
13-52520550-G-A
gnomAD v3:
13-51946414-G-A
gnomAD v4:
13-51946414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.51946414G>A , CM000675.2:g.51946414G>A | GRCh38 |
| NC_000013.10:g.52520550G>A , CM000675.1:g.52520550G>A | GRCh37 |
| NC_000013.9:g.51418551G>A | NCBI36 |
| NG_008806.1:g.70081C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634296.2:c.*763C>T | ENSP00000489512.2:n.*763C>T | |
| ENST00000673864.2:c.*1674C>T | ENSP00000501045.2:n.*1674C>T | |
| ENST00000674147.2:c.2309C>T | ENSP00000500964.2:p.Thr770Met | |
| ENST00000242839.10:c.2930C>T MANE Select | ENSP00000242839.5:p.Thr977Met | |
| ENST00000344297.9:c.2309C>T | ENSP00000342559.5:p.Thr770Met | |
| ENST00000400366.6:c.2597C>T | ENSP00000383217.3:p.Thr866Met | |
| ENST00000448424.7:c.2678C>T | ENSP00000416738.3:p.Thr893Met | |
| ENST00000673772.1:c.2696C>T | ENSP00000501168.1:p.Thr899Met | |
| ENST00000673867.1:n.1077C>T | ||
| ENST00000674126.1:n.3293C>T | ||
| ENST00000674147.1:c.1865C>T | ENSP00000500964.1:p.Thr622Met | |
| ENST00000242839.8:c.2930C>T | ENSP00000242839.4:p.Thr977Met | |
| ENST00000344297.8:c.2309C>T | ENSP00000342559.5:p.Thr770Met | |
| ENST00000400366.5:c.2597C>T | ENSP00000383217.3:p.Thr866Met | |
| ENST00000400370.8:c.1640C>T | ENSP00000383221.3:p.Thr547Met | |
| ENST00000418097.7:c.2866-2123C>T | ENSP00000393343.2:n.2866-2123C>T | |
| ENST00000448424.6:c.2696C>T | ENSP00000416738.2:p.Thr899Met | |
| ENST00000466629.1:n.150C>T | ||
| ENST00000634296.1:c.891C>T | ||
| ENST00000634308.1:c.*31C>T | ENSP00000489234.1:n.*31C>T | |
| ENST00000634620.1:n.3674C>T | ||
| ENST00000634810.1:n.2275C>T | ||
| ENST00000634844.1:c.2786C>T | ENSP00000489398.1:p.Thr929Met | |
| ENST00000635406.1:n.276C>T | ||
| NM_000053.3:c.2930C>T | NP_000044.2:p.Thr977Met | |
| NM_001005918.2:c.2309C>T | NP_001005918.1:p.Thr770Met | |
| NM_001243182.1:c.2597C>T | NP_001230111.1:p.Thr866Met | |
| XM_005266423.2:c.2834C>T | XP_005266480.1:p.Thr945Met | |
| XM_005266424.3:c.2834C>T | XP_005266481.1:p.Thr945Met | |
| XM_005266427.2:c.2696C>T | XP_005266484.1:p.Thr899Met | |
| XM_005266428.1:c.2678C>T | XP_005266485.1:p.Thr893Met | |
| XM_005266430.3:c.2930C>T | XP_005266487.1:p.Thr977Met | |
| XM_005266431.2:c.2894C>T | XP_005266488.1:p.Thr965Met | |
| XM_005266432.2:c.2444C>T | XP_005266489.1:p.Thr815Met | |
| XM_006719837.2:c.2834C>T | XP_006719900.1:p.Thr945Met | |
| XM_006719838.1:c.746C>T | XP_006719901.1:p.Thr249Met | |
| XM_006719839.1:c.746C>T | XP_006719902.1:p.Thr249Met | |
| XM_011535117.1:c.2834C>T | XP_011533419.1:p.Thr945Met | |
| XM_011535118.1:c.2795C>T | XP_011533420.1:p.Thr932Met | |
| XM_011535119.1:c.2930C>T | XP_011533421.1:p.Thr977Met | |
| XM_011535120.1:c.2516C>T | XP_011533422.1:p.Thr839Met | |
| XM_011535121.1:c.2730+3593C>T | XP_011533423.1:n.2730+3593C>T | |
| XM_011535122.1:c.1598C>T | XP_011533424.1:p.Thr533Met | |
| XR_941601.1:n.3149C>T | ||
| XR_941602.1:n.3149C>T | ||
| XR_941603.1:n.3149C>T | ||
| XR_941604.1:n.3149C>T | ||
| NM_001330578.1:c.2696C>T | NP_001317507.1:p.Thr899Met | |
| NM_001330579.1:c.2678C>T | NP_001317508.1:p.Thr893Met | |
| XM_005266424.4:c.2834C>T | XP_005266481.1:p.Thr945Met | |
| XM_005266430.4:c.2930C>T | XP_005266487.1:p.Thr977Met | |
| XM_005266431.4:c.2894C>T | XP_005266488.1:p.Thr965Met | |
| XM_006719837.3:c.2834C>T | XP_006719900.1:p.Thr945Met | |
| XM_011535117.3:c.2834C>T | XP_011533419.1:p.Thr945Met | |
| XM_017020627.1:c.2834C>T | XP_016876116.1:p.Thr945Met | |
| NM_000053.4:c.2930C>T MANE Select | NP_000044.2:p.Thr977Met | |
| NM_001005918.3:c.2309C>T | NP_001005918.1:p.Thr770Met | |
| NM_001330579.2:c.2678C>T | NP_001317508.1:p.Thr893Met | |
| NM_001243182.2:c.2597C>T | NP_001230111.1:p.Thr866Met | |
| NM_001330578.2:c.2696C>T | NP_001317507.1:p.Thr899Met |