Linked Data
ClinVar Variation Id:
194303
dbSNP Id:
rs141716975
ExAC:
6:152469204 G / A
gnomAD v2:
6-152469204-G-A
gnomAD v3:
6-152148069-G-A
gnomAD v4:
6-152148069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152148069G>A , CM000668.2:g.152148069G>A | GRCh38 |
| NC_000006.11:g.152469204G>A , CM000668.1:g.152469204G>A | GRCh37 |
| NC_000006.10:g.152510897G>A | NCBI36 |
| NG_012855.1:g.494331C>T | |
| NG_012855.2:g.494331C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1417C>T MANE Plus Clinical | ENSP00000346701.4:p.Leu473Phe | |
| ENST00000367255.10:c.24952C>T MANE Select | ENSP00000356224.5:p.Leu8318Phe | |
| ENST00000423061.6:c.24739C>T | ENSP00000396024.1:p.Leu8247Phe | |
| ENST00000672154.1:c.354C>T | ||
| ENST00000672169.1:c.687C>T | ||
| ENST00000673173.1:c.866C>T | ||
| ENST00000673451.1:c.724C>T | ENSP00000500189.1:p.Leu242Phe | |
| ENST00000341594.9:c.23737C>T | ENSP00000341887.6:p.Leu7913Phe | |
| ENST00000347037.9:n.1631C>T | ||
| ENST00000354674.4:c.1417C>T | ENSP00000346701.4:p.Leu473Phe | |
| ENST00000367251.7:c.3718C>T | ENSP00000356220.3:p.Leu1240Phe | |
| ENST00000367255.9:c.24952C>T | ENSP00000356224.5:p.Leu8318Phe | |
| ENST00000367256.9:n.8644C>T | ||
| ENST00000367257.8:c.2890C>T | ENSP00000356226.4:p.Leu964Phe | |
| ENST00000409694.6:n.8536C>T | ||
| ENST00000423061.5:c.24739C>T | ENSP00000396024.1:p.Leu8247Phe | |
| ENST00000460912.6:n.1497C>T | ||
| ENST00000472563.2:n.340C>T | ||
| ENST00000536990.5:n.1789C>T | ||
| ENST00000539504.5:c.1417C>T | ENSP00000441052.1:p.Leu473Phe | |
| NM_033071.3:c.24739C>T | NP_149062.1:p.Leu8247Phe | |
| NM_182961.3:c.24952C>T | NP_892006.3:p.Leu8318Phe | |
| XM_006715407.1:c.24988C>T | XP_006715470.1:p.Leu8330Phe | |
| XM_006715408.1:c.24976C>T | XP_006715471.1:p.Leu8326Phe | |
| XM_006715409.1:c.24967C>T | XP_006715472.1:p.Leu8323Phe | |
| XM_006715410.1:c.24988C>T | XP_006715473.1:p.Leu8330Phe | |
| XM_006715411.1:c.24937C>T | XP_006715474.1:p.Leu8313Phe | |
| XM_006715412.1:c.24973C>T | XP_006715475.1:p.Leu8325Phe | |
| XM_006715413.1:c.24988C>T | XP_006715476.1:p.Leu8330Phe | |
| XM_006715414.1:c.24916C>T | XP_006715477.1:p.Leu8306Phe | |
| XM_006715415.1:c.24988C>T | XP_006715478.1:p.Leu8330Phe | |
| XM_006715416.1:c.24973C>T | XP_006715479.1:p.Leu8325Phe | |
| XM_006715417.1:c.24847C>T | XP_006715480.1:p.Leu8283Phe | |
| XM_006715420.1:c.24835C>T | XP_006715483.1:p.Leu8279Phe | |
| XM_006715421.1:c.24832C>T | XP_006715484.1:p.Leu8278Phe | |
| XM_006715422.1:c.24829C>T | XP_006715485.1:p.Leu8277Phe | |
| XM_006715423.1:c.24988C>T | XP_006715486.1:p.Leu8330Phe | |
| XM_006715424.1:c.24988C>T | XP_006715487.1:p.Leu8330Phe | |
| XM_006715425.1:c.24988C>T | XP_006715488.1:p.Leu8330Phe | |
| XM_011535641.1:c.24985C>T | XP_011533943.1:p.Leu8329Phe | |
| XM_011535642.1:c.24973C>T | XP_011533944.1:p.Leu8325Phe | |
| XM_011535643.1:c.24823C>T | XP_011533945.1:p.Leu8275Phe | |
| XM_011535644.1:c.23263C>T | XP_011533946.1:p.Leu7755Phe | |
| XM_011535645.1:c.22756C>T | XP_011533947.1:p.Leu7586Phe | |
| XM_011535647.1:c.18223C>T | XP_011533949.1:p.Leu6075Phe | |
| NM_001347701.1:c.1558C>T | NP_001334630.1:p.Leu520Phe | |
| NM_001347702.1:c.1417C>T | NP_001334631.1:p.Leu473Phe | |
| XM_006715408.2:c.24976C>T | XP_006715471.1:p.Leu8326Phe | |
| XM_006715410.2:c.24988C>T | XP_006715473.1:p.Leu8330Phe | |
| XM_006715412.2:c.24973C>T | XP_006715475.1:p.Leu8325Phe | |
| XM_006715413.2:c.24988C>T | XP_006715476.1:p.Leu8330Phe | |
| XM_006715415.2:c.24988C>T | XP_006715478.1:p.Leu8330Phe | |
| XM_006715416.2:c.24973C>T | XP_006715479.1:p.Leu8325Phe | |
| XM_006715417.2:c.24847C>T | XP_006715480.1:p.Leu8283Phe | |
| XM_006715420.2:c.24835C>T | XP_006715483.1:p.Leu8279Phe | |
| XM_006715421.2:c.24832C>T | XP_006715484.1:p.Leu8278Phe | |
| XM_006715423.2:c.24988C>T | XP_006715486.1:p.Leu8330Phe | |
| XM_006715424.2:c.24988C>T | XP_006715487.1:p.Leu8330Phe | |
| XM_006715425.2:c.24988C>T | XP_006715488.1:p.Leu8330Phe | |
| XM_011535641.2:c.24985C>T | XP_011533943.1:p.Leu8329Phe | |
| XM_011535642.2:c.24973C>T | XP_011533944.1:p.Leu8325Phe | |
| XM_011535645.2:c.22756C>T | XP_011533947.1:p.Leu7586Phe | |
| XM_017010608.1:c.24988C>T | XP_016866097.1:p.Leu8330Phe | |
| XM_017010609.1:c.24988C>T | XP_016866098.1:p.Leu8330Phe | |
| XM_017010610.1:c.24967C>T | XP_016866099.1:p.Leu8323Phe | |
| XM_017010611.2:c.24961C>T | XP_016866100.1:p.Leu8321Phe | |
| XM_017010612.1:c.24910C>T | XP_016866101.1:p.Leu8304Phe | |
| XM_017010613.1:c.24985C>T | XP_016866102.1:p.Leu8329Phe | |
| XM_017010614.1:c.24832C>T | XP_016866103.1:p.Leu8278Phe | |
| XM_017010615.1:c.24832C>T | XP_016866104.1:p.Leu8278Phe | |
| XM_017010616.1:c.24988C>T | XP_016866105.1:p.Leu8330Phe | |
| XM_017010617.1:c.24985C>T | XP_016866106.1:p.Leu8329Phe | |
| XM_017010618.1:c.24973C>T | XP_016866107.1:p.Leu8325Phe | |
| XM_017010619.1:c.23263C>T | XP_016866108.1:p.Leu7755Phe | |
| NM_182961.4:c.24952C>T MANE Select | NP_892006.3:p.Leu8318Phe | |
| NM_001347701.2:c.1558C>T | NP_001334630.1:p.Leu520Phe | |
| NM_001347702.2:c.1417C>T MANE Plus Clinical | NP_001334631.1:p.Leu473Phe | |
| NM_033071.5:c.24739C>T | NP_149062.2:p.Leu8247Phe |