Linked Data
ClinVar Variation Id:
198675
dbSNP Id:
rs140136749
ExAC:
6:152652719 G / A
gnomAD v2:
6-152652719-G-A
gnomAD v3:
6-152331584-G-A
gnomAD v4:
6-152331584-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152331584G>A , CM000668.2:g.152331584G>A | GRCh38 |
| NC_000006.11:g.152652719G>A , CM000668.1:g.152652719G>A | GRCh37 |
| NC_000006.10:g.152694412G>A | NCBI36 |
| NG_012855.1:g.310816C>T | |
| NG_012855.2:g.310816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.13101C>T MANE Select | ENSP00000356224.5:p.Ile4367= | |
| ENST00000423061.6:c.12888C>T | ENSP00000396024.1:p.Ile4296= | |
| ENST00000341594.9:c.12645C>T | ENSP00000341887.6:p.Ile4215= | |
| ENST00000367255.9:c.13101C>T | ENSP00000356224.5:p.Ile4367= | |
| ENST00000423061.5:c.12888C>T | ENSP00000396024.1:p.Ile4296= | |
| ENST00000448038.2:c.-2818C>T | ENSP00000390975.2:n.-2818C>T | |
| ENST00000490135.6:n.447C>T | ||
| NM_033071.3:c.12888C>T | NP_149062.1:p.Ile4296= | |
| NM_182961.3:c.13101C>T | NP_892006.3:p.Ile4367= | |
| XM_006715407.1:c.13122C>T | XP_006715470.1:p.Ile4374= | |
| XM_006715408.1:c.13122C>T | XP_006715471.1:p.Ile4374= | |
| XM_006715409.1:c.13101C>T | XP_006715472.1:p.Ile4367= | |
| XM_006715410.1:c.13122C>T | XP_006715473.1:p.Ile4374= | |
| XM_006715411.1:c.13071C>T | XP_006715474.1:p.Ile4357= | |
| XM_006715412.1:c.13122C>T | XP_006715475.1:p.Ile4374= | |
| XM_006715413.1:c.13122C>T | XP_006715476.1:p.Ile4374= | |
| XM_006715414.1:c.13050C>T | XP_006715477.1:p.Ile4350= | |
| XM_006715415.1:c.13122C>T | XP_006715478.1:p.Ile4374= | |
| XM_006715416.1:c.13122C>T | XP_006715479.1:p.Ile4374= | |
| XM_006715417.1:c.13122C>T | XP_006715480.1:p.Ile4374= | |
| XM_006715420.1:c.13122C>T | XP_006715483.1:p.Ile4374= | |
| XM_006715421.1:c.12966C>T | XP_006715484.1:p.Ile4322= | |
| XM_006715422.1:c.12963C>T | XP_006715485.1:p.Ile4321= | |
| XM_006715423.1:c.13122C>T | XP_006715486.1:p.Ile4374= | |
| XM_006715424.1:c.13122C>T | XP_006715487.1:p.Ile4374= | |
| XM_006715425.1:c.13122C>T | XP_006715488.1:p.Ile4374= | |
| XM_011535641.1:c.13122C>T | XP_011533943.1:p.Ile4374= | |
| XM_011535642.1:c.13122C>T | XP_011533944.1:p.Ile4374= | |
| XM_011535643.1:c.12957C>T | XP_011533945.1:p.Ile4319= | |
| XM_011535644.1:c.11397C>T | XP_011533946.1:p.Ile3799= | |
| XM_011535645.1:c.10890C>T | XP_011533947.1:p.Ile3630= | |
| XM_011535646.1:c.13122C>T | XP_011533948.1:p.Ile4374= | |
| XM_011535647.1:c.6357C>T | XP_011533949.1:p.Ile2119= | |
| XM_006715408.2:c.13122C>T | XP_006715471.1:p.Ile4374= | |
| XM_006715410.2:c.13122C>T | XP_006715473.1:p.Ile4374= | |
| XM_006715412.2:c.13122C>T | XP_006715475.1:p.Ile4374= | |
| XM_006715413.2:c.13122C>T | XP_006715476.1:p.Ile4374= | |
| XM_006715415.2:c.13122C>T | XP_006715478.1:p.Ile4374= | |
| XM_006715416.2:c.13122C>T | XP_006715479.1:p.Ile4374= | |
| XM_006715417.2:c.13122C>T | XP_006715480.1:p.Ile4374= | |
| XM_006715420.2:c.13122C>T | XP_006715483.1:p.Ile4374= | |
| XM_006715421.2:c.12966C>T | XP_006715484.1:p.Ile4322= | |
| XM_006715423.2:c.13122C>T | XP_006715486.1:p.Ile4374= | |
| XM_006715424.2:c.13122C>T | XP_006715487.1:p.Ile4374= | |
| XM_006715425.2:c.13122C>T | XP_006715488.1:p.Ile4374= | |
| XM_011535641.2:c.13122C>T | XP_011533943.1:p.Ile4374= | |
| XM_011535642.2:c.13122C>T | XP_011533944.1:p.Ile4374= | |
| XM_011535645.2:c.10890C>T | XP_011533947.1:p.Ile3630= | |
| XM_017010608.1:c.13122C>T | XP_016866097.1:p.Ile4374= | |
| XM_017010609.1:c.13122C>T | XP_016866098.1:p.Ile4374= | |
| XM_017010610.1:c.13101C>T | XP_016866099.1:p.Ile4367= | |
| XM_017010611.2:c.13095C>T | XP_016866100.1:p.Ile4365= | |
| XM_017010612.1:c.13044C>T | XP_016866101.1:p.Ile4348= | |
| XM_017010613.1:c.13122C>T | XP_016866102.1:p.Ile4374= | |
| XM_017010614.1:c.13122C>T | XP_016866103.1:p.Ile4374= | |
| XM_017010615.1:c.13122C>T | XP_016866104.1:p.Ile4374= | |
| XM_017010616.1:c.13122C>T | XP_016866105.1:p.Ile4374= | |
| XM_017010617.1:c.13122C>T | XP_016866106.1:p.Ile4374= | |
| XM_017010618.1:c.13122C>T | XP_016866107.1:p.Ile4374= | |
| XM_017010619.1:c.11397C>T | XP_016866108.1:p.Ile3799= | |
| XR_001743287.1:n.13605C>T | ||
| NM_182961.4:c.13101C>T MANE Select | NP_892006.3:p.Ile4367= | |
| NM_033071.5:c.12888C>T | NP_149062.2:p.Ile4296= |