Linked Data
ClinVar Variation Id:
283301
dbSNP Id:
rs140577642
ExAC:
6:152527420 C / T
gnomAD v2:
6-152527420-C-T
gnomAD v3:
6-152206285-C-T
gnomAD v4:
6-152206285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152206285C>T , CM000668.2:g.152206285C>T | GRCh38 |
| NC_000006.11:g.152527420C>T , CM000668.1:g.152527420C>T | GRCh37 |
| NC_000006.10:g.152569113C>T | NCBI36 |
| NG_012855.1:g.436115G>A | |
| NG_012855.2:g.436115G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.22902G>A MANE Select | ENSP00000356224.5:p.Ser7634= | |
| ENST00000423061.6:c.22689G>A | ENSP00000396024.1:p.Ser7563= | |
| ENST00000341594.9:c.21687G>A | ENSP00000341887.6:p.Ser7229= | |
| ENST00000367251.7:c.1668G>A | ENSP00000356220.3:p.Ser556= | |
| ENST00000367255.9:c.22902G>A | ENSP00000356224.5:p.Ser7634= | |
| ENST00000367256.9:n.6594G>A | ||
| ENST00000367257.8:c.840G>A | ENSP00000356226.4:p.Ser280= | |
| ENST00000409694.6:n.6486G>A | ||
| ENST00000423061.5:c.22689G>A | ENSP00000396024.1:p.Ser7563= | |
| NM_033071.3:c.22689G>A | NP_149062.1:p.Ser7563= | |
| NM_182961.3:c.22902G>A | NP_892006.3:p.Ser7634= | |
| XM_006715407.1:c.22938G>A | XP_006715470.1:p.Ser7646= | |
| XM_006715408.1:c.22926G>A | XP_006715471.1:p.Ser7642= | |
| XM_006715409.1:c.22917G>A | XP_006715472.1:p.Ser7639= | |
| XM_006715410.1:c.22938G>A | XP_006715473.1:p.Ser7646= | |
| XM_006715411.1:c.22887G>A | XP_006715474.1:p.Ser7629= | |
| XM_006715412.1:c.22923G>A | XP_006715475.1:p.Ser7641= | |
| XM_006715413.1:c.22938G>A | XP_006715476.1:p.Ser7646= | |
| XM_006715414.1:c.22866G>A | XP_006715477.1:p.Ser7622= | |
| XM_006715415.1:c.22938G>A | XP_006715478.1:p.Ser7646= | |
| XM_006715416.1:c.22923G>A | XP_006715479.1:p.Ser7641= | |
| XM_006715417.1:c.22797G>A | XP_006715480.1:p.Ser7599= | |
| XM_006715420.1:c.22785G>A | XP_006715483.1:p.Ser7595= | |
| XM_006715421.1:c.22782G>A | XP_006715484.1:p.Ser7594= | |
| XM_006715422.1:c.22779G>A | XP_006715485.1:p.Ser7593= | |
| XM_006715423.1:c.22938G>A | XP_006715486.1:p.Ser7646= | |
| XM_006715424.1:c.22938G>A | XP_006715487.1:p.Ser7646= | |
| XM_006715425.1:c.22938G>A | XP_006715488.1:p.Ser7646= | |
| XM_011535641.1:c.22935G>A | XP_011533943.1:p.Ser7645= | |
| XM_011535642.1:c.22923G>A | XP_011533944.1:p.Ser7641= | |
| XM_011535643.1:c.22773G>A | XP_011533945.1:p.Ser7591= | |
| XM_011535644.1:c.21213G>A | XP_011533946.1:p.Ser7071= | |
| XM_011535645.1:c.20706G>A | XP_011533947.1:p.Ser6902= | |
| XM_011535647.1:c.16173G>A | XP_011533949.1:p.Ser5391= | |
| XM_006715408.2:c.22926G>A | XP_006715471.1:p.Ser7642= | |
| XM_006715410.2:c.22938G>A | XP_006715473.1:p.Ser7646= | |
| XM_006715412.2:c.22923G>A | XP_006715475.1:p.Ser7641= | |
| XM_006715413.2:c.22938G>A | XP_006715476.1:p.Ser7646= | |
| XM_006715415.2:c.22938G>A | XP_006715478.1:p.Ser7646= | |
| XM_006715416.2:c.22923G>A | XP_006715479.1:p.Ser7641= | |
| XM_006715417.2:c.22797G>A | XP_006715480.1:p.Ser7599= | |
| XM_006715420.2:c.22785G>A | XP_006715483.1:p.Ser7595= | |
| XM_006715421.2:c.22782G>A | XP_006715484.1:p.Ser7594= | |
| XM_006715423.2:c.22938G>A | XP_006715486.1:p.Ser7646= | |
| XM_006715424.2:c.22938G>A | XP_006715487.1:p.Ser7646= | |
| XM_006715425.2:c.22938G>A | XP_006715488.1:p.Ser7646= | |
| XM_011535641.2:c.22935G>A | XP_011533943.1:p.Ser7645= | |
| XM_011535642.2:c.22923G>A | XP_011533944.1:p.Ser7641= | |
| XM_011535645.2:c.20706G>A | XP_011533947.1:p.Ser6902= | |
| XM_017010608.1:c.22938G>A | XP_016866097.1:p.Ser7646= | |
| XM_017010609.1:c.22938G>A | XP_016866098.1:p.Ser7646= | |
| XM_017010610.1:c.22917G>A | XP_016866099.1:p.Ser7639= | |
| XM_017010611.2:c.22911G>A | XP_016866100.1:p.Ser7637= | |
| XM_017010612.1:c.22860G>A | XP_016866101.1:p.Ser7620= | |
| XM_017010613.1:c.22935G>A | XP_016866102.1:p.Ser7645= | |
| XM_017010614.1:c.22782G>A | XP_016866103.1:p.Ser7594= | |
| XM_017010615.1:c.22782G>A | XP_016866104.1:p.Ser7594= | |
| XM_017010616.1:c.22938G>A | XP_016866105.1:p.Ser7646= | |
| XM_017010617.1:c.22935G>A | XP_016866106.1:p.Ser7645= | |
| XM_017010618.1:c.22923G>A | XP_016866107.1:p.Ser7641= | |
| XM_017010619.1:c.21213G>A | XP_016866108.1:p.Ser7071= | |
| NM_182961.4:c.22902G>A MANE Select | NP_892006.3:p.Ser7634= | |
| NM_033071.5:c.22689G>A | NP_149062.2:p.Ser7563= |