Linked Data
ClinVar Variation Id:
514856
dbSNP Id:
rs377113267
ExAC:
6:152485331 C / T
gnomAD v2:
6-152485331-C-T
gnomAD v3:
6-152164196-C-T
gnomAD v4:
6-152164196-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152164196C>T , CM000668.2:g.152164196C>T | GRCh38 |
| NC_000006.11:g.152485331C>T , CM000668.1:g.152485331C>T | GRCh37 |
| NC_000006.10:g.152527024C>T | NCBI36 |
| NG_012855.1:g.478204G>A | |
| NG_012855.2:g.478204G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.222G>A MANE Plus Clinical | ENSP00000346701.4:p.Ser74= | |
| ENST00000367255.10:c.23757G>A MANE Select | ENSP00000356224.5:p.Ser7919= | |
| ENST00000423061.6:c.23544G>A | ENSP00000396024.1:p.Ser7848= | |
| ENST00000341594.9:c.22542G>A | ENSP00000341887.6:p.Ser7514= | |
| ENST00000347037.9:n.436G>A | ||
| ENST00000354674.4:c.222G>A | ENSP00000346701.4:p.Ser74= | |
| ENST00000367251.7:c.2523G>A | ENSP00000356220.3:p.Ser841= | |
| ENST00000367255.9:c.23757G>A | ENSP00000356224.5:p.Ser7919= | |
| ENST00000367256.9:n.7449G>A | ||
| ENST00000367257.8:c.1695G>A | ENSP00000356226.4:p.Ser565= | |
| ENST00000409694.6:n.7341G>A | ||
| ENST00000423061.5:c.23544G>A | ENSP00000396024.1:p.Ser7848= | |
| ENST00000460912.6:n.302G>A | ||
| ENST00000536990.5:n.594G>A | ||
| ENST00000539504.5:c.222G>A | ENSP00000441052.1:p.Ser74= | |
| NM_033071.3:c.23544G>A | NP_149062.1:p.Ser7848= | |
| NM_182961.3:c.23757G>A | NP_892006.3:p.Ser7919= | |
| XM_006715407.1:c.23793G>A | XP_006715470.1:p.Ser7931= | |
| XM_006715408.1:c.23781G>A | XP_006715471.1:p.Ser7927= | |
| XM_006715409.1:c.23772G>A | XP_006715472.1:p.Ser7924= | |
| XM_006715410.1:c.23793G>A | XP_006715473.1:p.Ser7931= | |
| XM_006715411.1:c.23742G>A | XP_006715474.1:p.Ser7914= | |
| XM_006715412.1:c.23778G>A | XP_006715475.1:p.Ser7926= | |
| XM_006715413.1:c.23793G>A | XP_006715476.1:p.Ser7931= | |
| XM_006715414.1:c.23721G>A | XP_006715477.1:p.Ser7907= | |
| XM_006715415.1:c.23793G>A | XP_006715478.1:p.Ser7931= | |
| XM_006715416.1:c.23778G>A | XP_006715479.1:p.Ser7926= | |
| XM_006715417.1:c.23652G>A | XP_006715480.1:p.Ser7884= | |
| XM_006715420.1:c.23640G>A | XP_006715483.1:p.Ser7880= | |
| XM_006715421.1:c.23637G>A | XP_006715484.1:p.Ser7879= | |
| XM_006715422.1:c.23634G>A | XP_006715485.1:p.Ser7878= | |
| XM_006715423.1:c.23793G>A | XP_006715486.1:p.Ser7931= | |
| XM_006715424.1:c.23793G>A | XP_006715487.1:p.Ser7931= | |
| XM_006715425.1:c.23793G>A | XP_006715488.1:p.Ser7931= | |
| XM_011535641.1:c.23790G>A | XP_011533943.1:p.Ser7930= | |
| XM_011535642.1:c.23778G>A | XP_011533944.1:p.Ser7926= | |
| XM_011535643.1:c.23628G>A | XP_011533945.1:p.Ser7876= | |
| XM_011535644.1:c.22068G>A | XP_011533946.1:p.Ser7356= | |
| XM_011535645.1:c.21561G>A | XP_011533947.1:p.Ser7187= | |
| XM_011535647.1:c.17028G>A | XP_011533949.1:p.Ser5676= | |
| NM_001347701.1:c.363G>A | NP_001334630.1:p.Ser121= | |
| NM_001347702.1:c.222G>A | NP_001334631.1:p.Ser74= | |
| XM_006715408.2:c.23781G>A | XP_006715471.1:p.Ser7927= | |
| XM_006715410.2:c.23793G>A | XP_006715473.1:p.Ser7931= | |
| XM_006715412.2:c.23778G>A | XP_006715475.1:p.Ser7926= | |
| XM_006715413.2:c.23793G>A | XP_006715476.1:p.Ser7931= | |
| XM_006715415.2:c.23793G>A | XP_006715478.1:p.Ser7931= | |
| XM_006715416.2:c.23778G>A | XP_006715479.1:p.Ser7926= | |
| XM_006715417.2:c.23652G>A | XP_006715480.1:p.Ser7884= | |
| XM_006715420.2:c.23640G>A | XP_006715483.1:p.Ser7880= | |
| XM_006715421.2:c.23637G>A | XP_006715484.1:p.Ser7879= | |
| XM_006715423.2:c.23793G>A | XP_006715486.1:p.Ser7931= | |
| XM_006715424.2:c.23793G>A | XP_006715487.1:p.Ser7931= | |
| XM_006715425.2:c.23793G>A | XP_006715488.1:p.Ser7931= | |
| XM_011535641.2:c.23790G>A | XP_011533943.1:p.Ser7930= | |
| XM_011535642.2:c.23778G>A | XP_011533944.1:p.Ser7926= | |
| XM_011535645.2:c.21561G>A | XP_011533947.1:p.Ser7187= | |
| XM_017010608.1:c.23793G>A | XP_016866097.1:p.Ser7931= | |
| XM_017010609.1:c.23793G>A | XP_016866098.1:p.Ser7931= | |
| XM_017010610.1:c.23772G>A | XP_016866099.1:p.Ser7924= | |
| XM_017010611.2:c.23766G>A | XP_016866100.1:p.Ser7922= | |
| XM_017010612.1:c.23715G>A | XP_016866101.1:p.Ser7905= | |
| XM_017010613.1:c.23790G>A | XP_016866102.1:p.Ser7930= | |
| XM_017010614.1:c.23637G>A | XP_016866103.1:p.Ser7879= | |
| XM_017010615.1:c.23637G>A | XP_016866104.1:p.Ser7879= | |
| XM_017010616.1:c.23793G>A | XP_016866105.1:p.Ser7931= | |
| XM_017010617.1:c.23790G>A | XP_016866106.1:p.Ser7930= | |
| XM_017010618.1:c.23778G>A | XP_016866107.1:p.Ser7926= | |
| XM_017010619.1:c.22068G>A | XP_016866108.1:p.Ser7356= | |
| NM_182961.4:c.23757G>A MANE Select | NP_892006.3:p.Ser7919= | |
| NM_001347701.2:c.363G>A | NP_001334630.1:p.Ser121= | |
| NM_001347702.2:c.222G>A MANE Plus Clinical | NP_001334631.1:p.Ser74= | |
| NM_033071.5:c.23544G>A | NP_149062.2:p.Ser7848= |