Linked Data
ClinVar Variation Id:
285142
ClinVar RCV Id:
RCV001718577
dbSNP Id:
rs138628147
ExAC:
6:152554982 C / T
gnomAD v2:
6-152554982-C-T
gnomAD v3:
6-152233847-C-T
gnomAD v4:
6-152233847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152233847C>T , CM000668.2:g.152233847C>T | GRCh38 |
| NC_000006.11:g.152554982C>T , CM000668.1:g.152554982C>T | GRCh37 |
| NC_000006.10:g.152596675C>T | NCBI36 |
| NG_012855.1:g.408553G>A | |
| NG_012855.2:g.408553G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367255.10:c.20646G>A MANE Select | ENSP00000356224.5:p.Ser6882= | |
| ENST00000423061.6:c.20433G>A | ENSP00000396024.1:p.Ser6811= | |
| ENST00000341594.9:c.19431G>A | ENSP00000341887.6:p.Ser6477= | |
| ENST00000367255.9:c.20646G>A | ENSP00000356224.5:p.Ser6882= | |
| ENST00000367256.9:n.4338G>A | ||
| ENST00000409694.6:n.4230G>A | ||
| ENST00000423061.5:c.20433G>A | ENSP00000396024.1:p.Ser6811= | |
| NM_033071.3:c.20433G>A | NP_149062.1:p.Ser6811= | |
| NM_182961.3:c.20646G>A | NP_892006.3:p.Ser6882= | |
| XM_006715407.1:c.20682G>A | XP_006715470.1:p.Ser6894= | |
| XM_006715408.1:c.20670G>A | XP_006715471.1:p.Ser6890= | |
| XM_006715409.1:c.20661G>A | XP_006715472.1:p.Ser6887= | |
| XM_006715410.1:c.20682G>A | XP_006715473.1:p.Ser6894= | |
| XM_006715411.1:c.20631G>A | XP_006715474.1:p.Ser6877= | |
| XM_006715412.1:c.20667G>A | XP_006715475.1:p.Ser6889= | |
| XM_006715413.1:c.20682G>A | XP_006715476.1:p.Ser6894= | |
| XM_006715414.1:c.20610G>A | XP_006715477.1:p.Ser6870= | |
| XM_006715415.1:c.20682G>A | XP_006715478.1:p.Ser6894= | |
| XM_006715416.1:c.20667G>A | XP_006715479.1:p.Ser6889= | |
| XM_006715417.1:c.20541G>A | XP_006715480.1:p.Ser6847= | |
| XM_006715420.1:c.20529G>A | XP_006715483.1:p.Ser6843= | |
| XM_006715421.1:c.20526G>A | XP_006715484.1:p.Ser6842= | |
| XM_006715422.1:c.20523G>A | XP_006715485.1:p.Ser6841= | |
| XM_006715423.1:c.20682G>A | XP_006715486.1:p.Ser6894= | |
| XM_006715424.1:c.20682G>A | XP_006715487.1:p.Ser6894= | |
| XM_006715425.1:c.20682G>A | XP_006715488.1:p.Ser6894= | |
| XM_011535641.1:c.20679G>A | XP_011533943.1:p.Ser6893= | |
| XM_011535642.1:c.20667G>A | XP_011533944.1:p.Ser6889= | |
| XM_011535643.1:c.20517G>A | XP_011533945.1:p.Ser6839= | |
| XM_011535644.1:c.18957G>A | XP_011533946.1:p.Ser6319= | |
| XM_011535645.1:c.18450G>A | XP_011533947.1:p.Ser6150= | |
| XM_011535647.1:c.13917G>A | XP_011533949.1:p.Ser4639= | |
| XM_006715408.2:c.20670G>A | XP_006715471.1:p.Ser6890= | |
| XM_006715410.2:c.20682G>A | XP_006715473.1:p.Ser6894= | |
| XM_006715412.2:c.20667G>A | XP_006715475.1:p.Ser6889= | |
| XM_006715413.2:c.20682G>A | XP_006715476.1:p.Ser6894= | |
| XM_006715415.2:c.20682G>A | XP_006715478.1:p.Ser6894= | |
| XM_006715416.2:c.20667G>A | XP_006715479.1:p.Ser6889= | |
| XM_006715417.2:c.20541G>A | XP_006715480.1:p.Ser6847= | |
| XM_006715420.2:c.20529G>A | XP_006715483.1:p.Ser6843= | |
| XM_006715421.2:c.20526G>A | XP_006715484.1:p.Ser6842= | |
| XM_006715423.2:c.20682G>A | XP_006715486.1:p.Ser6894= | |
| XM_006715424.2:c.20682G>A | XP_006715487.1:p.Ser6894= | |
| XM_006715425.2:c.20682G>A | XP_006715488.1:p.Ser6894= | |
| XM_011535641.2:c.20679G>A | XP_011533943.1:p.Ser6893= | |
| XM_011535642.2:c.20667G>A | XP_011533944.1:p.Ser6889= | |
| XM_011535645.2:c.18450G>A | XP_011533947.1:p.Ser6150= | |
| XM_017010608.1:c.20682G>A | XP_016866097.1:p.Ser6894= | |
| XM_017010609.1:c.20682G>A | XP_016866098.1:p.Ser6894= | |
| XM_017010610.1:c.20661G>A | XP_016866099.1:p.Ser6887= | |
| XM_017010611.2:c.20655G>A | XP_016866100.1:p.Ser6885= | |
| XM_017010612.1:c.20604G>A | XP_016866101.1:p.Ser6868= | |
| XM_017010613.1:c.20679G>A | XP_016866102.1:p.Ser6893= | |
| XM_017010614.1:c.20526G>A | XP_016866103.1:p.Ser6842= | |
| XM_017010615.1:c.20526G>A | XP_016866104.1:p.Ser6842= | |
| XM_017010616.1:c.20682G>A | XP_016866105.1:p.Ser6894= | |
| XM_017010617.1:c.20679G>A | XP_016866106.1:p.Ser6893= | |
| XM_017010618.1:c.20667G>A | XP_016866107.1:p.Ser6889= | |
| XM_017010619.1:c.18957G>A | XP_016866108.1:p.Ser6319= | |
| NM_182961.4:c.20646G>A MANE Select | NP_892006.3:p.Ser6882= | |
| NM_033071.5:c.20433G>A | NP_149062.2:p.Ser6811= |