Linked Data
ClinVar Variation Id:
355815
dbSNP Id:
rs572195368
ExAC:
6:152476165 C / T
gnomAD v2:
6-152476165-C-T
gnomAD v3:
6-152155030-C-T
gnomAD v4:
6-152155030-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152155030C>T , CM000668.2:g.152155030C>T | GRCh38 |
| NC_000006.11:g.152476165C>T , CM000668.1:g.152476165C>T | GRCh37 |
| NC_000006.10:g.152517858C>T | NCBI36 |
| NG_012855.1:g.487370G>A | |
| NG_012855.2:g.487370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.456G>A MANE Plus Clinical | ENSP00000346701.4:p.Thr152= | |
| ENST00000367255.10:c.23991G>A MANE Select | ENSP00000356224.5:p.Thr7997= | |
| ENST00000423061.6:c.23778G>A | ENSP00000396024.1:p.Thr7926= | |
| ENST00000341594.9:c.22776G>A | ENSP00000341887.6:p.Thr7592= | |
| ENST00000347037.9:n.670G>A | ||
| ENST00000354674.4:c.456G>A | ENSP00000346701.4:p.Thr152= | |
| ENST00000367251.7:c.2757G>A | ENSP00000356220.3:p.Thr919= | |
| ENST00000367255.9:c.23991G>A | ENSP00000356224.5:p.Thr7997= | |
| ENST00000367256.9:n.7683G>A | ||
| ENST00000367257.8:c.1929G>A | ENSP00000356226.4:p.Thr643= | |
| ENST00000409694.6:n.7575G>A | ||
| ENST00000423061.5:c.23778G>A | ENSP00000396024.1:p.Thr7926= | |
| ENST00000460912.6:n.536G>A | ||
| ENST00000476519.1:n.53G>A | ||
| ENST00000490866.2:n.366G>A | ||
| ENST00000536990.5:n.828G>A | ||
| ENST00000539504.5:c.456G>A | ENSP00000441052.1:p.Thr152= | |
| NM_033071.3:c.23778G>A | NP_149062.1:p.Thr7926= | |
| NM_182961.3:c.23991G>A | NP_892006.3:p.Thr7997= | |
| XM_006715407.1:c.24027G>A | XP_006715470.1:p.Thr8009= | |
| XM_006715408.1:c.24015G>A | XP_006715471.1:p.Thr8005= | |
| XM_006715409.1:c.24006G>A | XP_006715472.1:p.Thr8002= | |
| XM_006715410.1:c.24027G>A | XP_006715473.1:p.Thr8009= | |
| XM_006715411.1:c.23976G>A | XP_006715474.1:p.Thr7992= | |
| XM_006715412.1:c.24012G>A | XP_006715475.1:p.Thr8004= | |
| XM_006715413.1:c.24027G>A | XP_006715476.1:p.Thr8009= | |
| XM_006715414.1:c.23955G>A | XP_006715477.1:p.Thr7985= | |
| XM_006715415.1:c.24027G>A | XP_006715478.1:p.Thr8009= | |
| XM_006715416.1:c.24012G>A | XP_006715479.1:p.Thr8004= | |
| XM_006715417.1:c.23886G>A | XP_006715480.1:p.Thr7962= | |
| XM_006715420.1:c.23874G>A | XP_006715483.1:p.Thr7958= | |
| XM_006715421.1:c.23871G>A | XP_006715484.1:p.Thr7957= | |
| XM_006715422.1:c.23868G>A | XP_006715485.1:p.Thr7956= | |
| XM_006715423.1:c.24027G>A | XP_006715486.1:p.Thr8009= | |
| XM_006715424.1:c.24027G>A | XP_006715487.1:p.Thr8009= | |
| XM_006715425.1:c.24027G>A | XP_006715488.1:p.Thr8009= | |
| XM_011535641.1:c.24024G>A | XP_011533943.1:p.Thr8008= | |
| XM_011535642.1:c.24012G>A | XP_011533944.1:p.Thr8004= | |
| XM_011535643.1:c.23862G>A | XP_011533945.1:p.Thr7954= | |
| XM_011535644.1:c.22302G>A | XP_011533946.1:p.Thr7434= | |
| XM_011535645.1:c.21795G>A | XP_011533947.1:p.Thr7265= | |
| XM_011535647.1:c.17262G>A | XP_011533949.1:p.Thr5754= | |
| NM_001347701.1:c.597G>A | NP_001334630.1:p.Thr199= | |
| NM_001347702.1:c.456G>A | NP_001334631.1:p.Thr152= | |
| XM_006715408.2:c.24015G>A | XP_006715471.1:p.Thr8005= | |
| XM_006715410.2:c.24027G>A | XP_006715473.1:p.Thr8009= | |
| XM_006715412.2:c.24012G>A | XP_006715475.1:p.Thr8004= | |
| XM_006715413.2:c.24027G>A | XP_006715476.1:p.Thr8009= | |
| XM_006715415.2:c.24027G>A | XP_006715478.1:p.Thr8009= | |
| XM_006715416.2:c.24012G>A | XP_006715479.1:p.Thr8004= | |
| XM_006715417.2:c.23886G>A | XP_006715480.1:p.Thr7962= | |
| XM_006715420.2:c.23874G>A | XP_006715483.1:p.Thr7958= | |
| XM_006715421.2:c.23871G>A | XP_006715484.1:p.Thr7957= | |
| XM_006715423.2:c.24027G>A | XP_006715486.1:p.Thr8009= | |
| XM_006715424.2:c.24027G>A | XP_006715487.1:p.Thr8009= | |
| XM_006715425.2:c.24027G>A | XP_006715488.1:p.Thr8009= | |
| XM_011535641.2:c.24024G>A | XP_011533943.1:p.Thr8008= | |
| XM_011535642.2:c.24012G>A | XP_011533944.1:p.Thr8004= | |
| XM_011535645.2:c.21795G>A | XP_011533947.1:p.Thr7265= | |
| XM_017010608.1:c.24027G>A | XP_016866097.1:p.Thr8009= | |
| XM_017010609.1:c.24027G>A | XP_016866098.1:p.Thr8009= | |
| XM_017010610.1:c.24006G>A | XP_016866099.1:p.Thr8002= | |
| XM_017010611.2:c.24000G>A | XP_016866100.1:p.Thr8000= | |
| XM_017010612.1:c.23949G>A | XP_016866101.1:p.Thr7983= | |
| XM_017010613.1:c.24024G>A | XP_016866102.1:p.Thr8008= | |
| XM_017010614.1:c.23871G>A | XP_016866103.1:p.Thr7957= | |
| XM_017010615.1:c.23871G>A | XP_016866104.1:p.Thr7957= | |
| XM_017010616.1:c.24027G>A | XP_016866105.1:p.Thr8009= | |
| XM_017010617.1:c.24024G>A | XP_016866106.1:p.Thr8008= | |
| XM_017010618.1:c.24012G>A | XP_016866107.1:p.Thr8004= | |
| XM_017010619.1:c.22302G>A | XP_016866108.1:p.Thr7434= | |
| NM_182961.4:c.23991G>A MANE Select | NP_892006.3:p.Thr7997= | |
| NM_001347701.2:c.597G>A | NP_001334630.1:p.Thr199= | |
| NM_001347702.2:c.456G>A MANE Plus Clinical | NP_001334631.1:p.Thr152= | |
| NM_033071.5:c.23778G>A | NP_149062.2:p.Thr7926= |