Linked Data
ClinVar Variation Id:
130447
dbSNP Id:
rs587780469
ExAC:
6:152746527 G / T
gnomAD v2:
6-152746527-G-T
gnomAD v3:
6-152425392-G-T
gnomAD v4:
6-152425392-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152425392G>T , CM000668.2:g.152425392G>T | GRCh38 |
| NC_000006.11:g.152746527G>T , CM000668.1:g.152746527G>T | GRCh37 |
| NC_000006.10:g.152788220G>T | NCBI36 |
| NG_012855.1:g.217008C>A | |
| NG_012855.2:g.217008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367255.10:c.5256C>A MANE Select | ENSP00000356224.5:p.Ile1752= | |
| ENST00000423061.6:c.5277C>A | ENSP00000396024.1:p.Ile1759= | |
| ENST00000341594.9:c.5316C>A | ENSP00000341887.6:p.Ile1772= | |
| ENST00000367255.9:c.5256C>A | ENSP00000356224.5:p.Ile1752= | |
| ENST00000423061.5:c.5277C>A | ENSP00000396024.1:p.Ile1759= | |
| ENST00000461872.6:n.5474C>A | ||
| NM_033071.3:c.5277C>A | NP_149062.1:p.Ile1759= | |
| NM_182961.3:c.5256C>A | NP_892006.3:p.Ile1752= | |
| XM_006715407.1:c.5277C>A | XP_006715470.1:p.Ile1759= | |
| XM_006715408.1:c.5277C>A | XP_006715471.1:p.Ile1759= | |
| XM_006715409.1:c.5256C>A | XP_006715472.1:p.Ile1752= | |
| XM_006715410.1:c.5277C>A | XP_006715473.1:p.Ile1759= | |
| XM_006715411.1:c.5226C>A | XP_006715474.1:p.Ile1742= | |
| XM_006715412.1:c.5277C>A | XP_006715475.1:p.Ile1759= | |
| XM_006715413.1:c.5277C>A | XP_006715476.1:p.Ile1759= | |
| XM_006715414.1:c.5205C>A | XP_006715477.1:p.Ile1735= | |
| XM_006715415.1:c.5277C>A | XP_006715478.1:p.Ile1759= | |
| XM_006715416.1:c.5277C>A | XP_006715479.1:p.Ile1759= | |
| XM_006715417.1:c.5277C>A | XP_006715480.1:p.Ile1759= | |
| XM_006715420.1:c.5277C>A | XP_006715483.1:p.Ile1759= | |
| XM_006715421.1:c.5277C>A | XP_006715484.1:p.Ile1759= | |
| XM_006715422.1:c.5118C>A | XP_006715485.1:p.Ile1706= | |
| XM_006715423.1:c.5277C>A | XP_006715486.1:p.Ile1759= | |
| XM_006715424.1:c.5277C>A | XP_006715487.1:p.Ile1759= | |
| XM_006715425.1:c.5277C>A | XP_006715488.1:p.Ile1759= | |
| XM_011535641.1:c.5277C>A | XP_011533943.1:p.Ile1759= | |
| XM_011535642.1:c.5277C>A | XP_011533944.1:p.Ile1759= | |
| XM_011535643.1:c.5112C>A | XP_011533945.1:p.Ile1704= | |
| XM_011535644.1:c.3552C>A | XP_011533946.1:p.Ile1184= | |
| XM_011535645.1:c.3045C>A | XP_011533947.1:p.Ile1015= | |
| XM_011535646.1:c.5277C>A | XP_011533948.1:p.Ile1759= | |
| XM_006715408.2:c.5277C>A | XP_006715471.1:p.Ile1759= | |
| XM_006715410.2:c.5277C>A | XP_006715473.1:p.Ile1759= | |
| XM_006715412.2:c.5277C>A | XP_006715475.1:p.Ile1759= | |
| XM_006715413.2:c.5277C>A | XP_006715476.1:p.Ile1759= | |
| XM_006715415.2:c.5277C>A | XP_006715478.1:p.Ile1759= | |
| XM_006715416.2:c.5277C>A | XP_006715479.1:p.Ile1759= | |
| XM_006715417.2:c.5277C>A | XP_006715480.1:p.Ile1759= | |
| XM_006715420.2:c.5277C>A | XP_006715483.1:p.Ile1759= | |
| XM_006715421.2:c.5277C>A | XP_006715484.1:p.Ile1759= | |
| XM_006715423.2:c.5277C>A | XP_006715486.1:p.Ile1759= | |
| XM_006715424.2:c.5277C>A | XP_006715487.1:p.Ile1759= | |
| XM_006715425.2:c.5277C>A | XP_006715488.1:p.Ile1759= | |
| XM_011535641.2:c.5277C>A | XP_011533943.1:p.Ile1759= | |
| XM_011535642.2:c.5277C>A | XP_011533944.1:p.Ile1759= | |
| XM_011535645.2:c.3045C>A | XP_011533947.1:p.Ile1015= | |
| XM_017010608.1:c.5277C>A | XP_016866097.1:p.Ile1759= | |
| XM_017010609.1:c.5277C>A | XP_016866098.1:p.Ile1759= | |
| XM_017010610.1:c.5256C>A | XP_016866099.1:p.Ile1752= | |
| XM_017010611.2:c.5250C>A | XP_016866100.1:p.Ile1750= | |
| XM_017010612.1:c.5199C>A | XP_016866101.1:p.Ile1733= | |
| XM_017010613.1:c.5277C>A | XP_016866102.1:p.Ile1759= | |
| XM_017010614.1:c.5277C>A | XP_016866103.1:p.Ile1759= | |
| XM_017010615.1:c.5277C>A | XP_016866104.1:p.Ile1759= | |
| XM_017010616.1:c.5277C>A | XP_016866105.1:p.Ile1759= | |
| XM_017010617.1:c.5277C>A | XP_016866106.1:p.Ile1759= | |
| XM_017010618.1:c.5277C>A | XP_016866107.1:p.Ile1759= | |
| XM_017010619.1:c.3552C>A | XP_016866108.1:p.Ile1184= | |
| XR_001743287.1:n.5760C>A | ||
| NM_182961.4:c.5256C>A MANE Select | NP_892006.3:p.Ile1752= | |
| NM_033071.5:c.5277C>A | NP_149062.2:p.Ile1759= |