Linked Data
ClinVar Variation Id:
281853
dbSNP Id:
rs764235096
ExAC:
6:152457788 G / A
gnomAD v2:
6-152457788-G-A
gnomAD v3:
6-152136653-G-A
gnomAD v4:
6-152136653-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152136653G>A , CM000668.2:g.152136653G>A | GRCh38 |
| NC_000006.11:g.152457788G>A , CM000668.1:g.152457788G>A | GRCh37 |
| NC_000006.10:g.152499481G>A | NCBI36 |
| NG_012855.1:g.505747C>T | |
| NG_012855.2:g.505747C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2158C>T MANE Plus Clinical | ENSP00000346701.4:p.Arg720Trp | |
| ENST00000367255.10:c.25624C>T MANE Select | ENSP00000356224.5:p.Arg8542Trp | |
| ENST00000423061.6:c.25480C>T | ENSP00000396024.1:p.Arg8494Trp | |
| ENST00000672154.1:c.1026C>T | ||
| ENST00000672169.1:c.1359C>T | ||
| ENST00000673173.1:c.1268C>T | ||
| ENST00000673451.1:c.1396C>T | ENSP00000500189.1:p.Arg466Trp | |
| ENST00000341594.9:c.24409C>T | ENSP00000341887.6:p.Arg8137Trp | |
| ENST00000347037.9:n.2372C>T | ||
| ENST00000354674.4:c.2158C>T | ENSP00000346701.4:p.Arg720Trp | |
| ENST00000367251.7:c.4459C>T | ENSP00000356220.3:p.Arg1487Trp | |
| ENST00000367255.9:c.25624C>T | ENSP00000356224.5:p.Arg8542Trp | |
| ENST00000367256.9:n.9316C>T | ||
| ENST00000367257.8:c.3562C>T | ENSP00000356226.4:p.Arg1188Trp | |
| ENST00000409694.6:n.9208C>T | ||
| ENST00000423061.5:c.25480C>T | ENSP00000396024.1:p.Arg8494Trp | |
| ENST00000460912.6:n.2238C>T | ||
| ENST00000478916.5:n.4646C>T | ||
| ENST00000536990.5:n.2461C>T | ||
| ENST00000539504.5:c.2089C>T | ENSP00000441052.1:p.Arg697Trp | |
| NM_033071.3:c.25480C>T | NP_149062.1:p.Arg8494Trp | |
| NM_182961.3:c.25624C>T | NP_892006.3:p.Arg8542Trp | |
| XM_006715407.1:c.25729C>T | XP_006715470.1:p.Arg8577Trp | |
| XM_006715408.1:c.25717C>T | XP_006715471.1:p.Arg8573Trp | |
| XM_006715409.1:c.25708C>T | XP_006715472.1:p.Arg8570Trp | |
| XM_006715410.1:c.25729C>T | XP_006715473.1:p.Arg8577Trp | |
| XM_006715411.1:c.25678C>T | XP_006715474.1:p.Arg8560Trp | |
| XM_006715412.1:c.25714C>T | XP_006715475.1:p.Arg8572Trp | |
| XM_006715413.1:c.25660C>T | XP_006715476.1:p.Arg8554Trp | |
| XM_006715414.1:c.25657C>T | XP_006715477.1:p.Arg8553Trp | |
| XM_006715415.1:c.25660C>T | XP_006715478.1:p.Arg8554Trp | |
| XM_006715416.1:c.25645C>T | XP_006715479.1:p.Arg8549Trp | |
| XM_006715417.1:c.25588C>T | XP_006715480.1:p.Arg8530Trp | |
| XM_006715420.1:c.25576C>T | XP_006715483.1:p.Arg8526Trp | |
| XM_006715421.1:c.25573C>T | XP_006715484.1:p.Arg8525Trp | |
| XM_006715422.1:c.25570C>T | XP_006715485.1:p.Arg8524Trp | |
| XM_006715423.1:c.25729C>T | XP_006715486.1:p.Arg8577Trp | |
| XM_006715424.1:c.25729C>T | XP_006715487.1:p.Arg8577Trp | |
| XM_006715425.1:c.25660C>T | XP_006715488.1:p.Arg8554Trp | |
| XM_011535641.1:c.25726C>T | XP_011533943.1:p.Arg8576Trp | |
| XM_011535642.1:c.25714C>T | XP_011533944.1:p.Arg8572Trp | |
| XM_011535643.1:c.25564C>T | XP_011533945.1:p.Arg8522Trp | |
| XM_011535644.1:c.24004C>T | XP_011533946.1:p.Arg8002Trp | |
| XM_011535645.1:c.23497C>T | XP_011533947.1:p.Arg7833Trp | |
| XM_011535647.1:c.18964C>T | XP_011533949.1:p.Arg6322Trp | |
| NM_001347701.1:c.2230C>T | NP_001334630.1:p.Arg744Trp | |
| NM_001347702.1:c.2158C>T | NP_001334631.1:p.Arg720Trp | |
| XM_006715408.2:c.25717C>T | XP_006715471.1:p.Arg8573Trp | |
| XM_006715410.2:c.25729C>T | XP_006715473.1:p.Arg8577Trp | |
| XM_006715412.2:c.25714C>T | XP_006715475.1:p.Arg8572Trp | |
| XM_006715413.2:c.25660C>T | XP_006715476.1:p.Arg8554Trp | |
| XM_006715415.2:c.25660C>T | XP_006715478.1:p.Arg8554Trp | |
| XM_006715416.2:c.25645C>T | XP_006715479.1:p.Arg8549Trp | |
| XM_006715417.2:c.25588C>T | XP_006715480.1:p.Arg8530Trp | |
| XM_006715420.2:c.25576C>T | XP_006715483.1:p.Arg8526Trp | |
| XM_006715421.2:c.25573C>T | XP_006715484.1:p.Arg8525Trp | |
| XM_006715423.2:c.25729C>T | XP_006715486.1:p.Arg8577Trp | |
| XM_006715424.2:c.25729C>T | XP_006715487.1:p.Arg8577Trp | |
| XM_006715425.2:c.25660C>T | XP_006715488.1:p.Arg8554Trp | |
| XM_011535641.2:c.25726C>T | XP_011533943.1:p.Arg8576Trp | |
| XM_011535642.2:c.25714C>T | XP_011533944.1:p.Arg8572Trp | |
| XM_011535645.2:c.23497C>T | XP_011533947.1:p.Arg7833Trp | |
| XM_017010608.1:c.25729C>T | XP_016866097.1:p.Arg8577Trp | |
| XM_017010609.1:c.25729C>T | XP_016866098.1:p.Arg8577Trp | |
| XM_017010610.1:c.25708C>T | XP_016866099.1:p.Arg8570Trp | |
| XM_017010611.2:c.25702C>T | XP_016866100.1:p.Arg8568Trp | |
| XM_017010612.1:c.25651C>T | XP_016866101.1:p.Arg8551Trp | |
| XM_017010613.1:c.25657C>T | XP_016866102.1:p.Arg8553Trp | |
| XM_017010614.1:c.25573C>T | XP_016866103.1:p.Arg8525Trp | |
| XM_017010615.1:c.25504C>T | XP_016866104.1:p.Arg8502Trp | |
| XM_017010616.1:c.25660C>T | XP_016866105.1:p.Arg8554Trp | |
| XM_017010617.1:c.25657C>T | XP_016866106.1:p.Arg8553Trp | |
| XM_017010618.1:c.25645C>T | XP_016866107.1:p.Arg8549Trp | |
| XM_017010619.1:c.24004C>T | XP_016866108.1:p.Arg8002Trp | |
| NM_182961.4:c.25624C>T MANE Select | NP_892006.3:p.Arg8542Trp | |
| NM_001347701.2:c.2230C>T | NP_001334630.1:p.Arg744Trp | |
| NM_001347702.2:c.2158C>T MANE Plus Clinical | NP_001334631.1:p.Arg720Trp | |
| NM_033071.5:c.25480C>T | NP_149062.2:p.Arg8494Trp |