ClinVar Variation:
COSMIC:
COSM4537541
COSM4537542
COSM4537543
COSM4537544
COSM4537545
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004535 (NFE)
Genomes Max Group AF
0.00003761 (NFE)
Exomes Max Group AF
0.00004351 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152151655C>T , CM000668.2:g.152151655C>T | GRCh38 |
| NC_000006.11:g.152472790C>T , CM000668.1:g.152472790C>T | GRCh37 |
| NC_000006.10:g.152514483C>T | NCBI36 |
| NG_012855.1:g.490745G>A | |
| NG_012855.2:g.490745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.813G>A MANE Plus Clinical | ENSP00000346701.4:p.Ala271= | |
| ENST00000367255.10:c.24348G>A MANE Select | ENSP00000356224.5:p.Ala8116= | |
| ENST00000423061.6:c.24135G>A | ENSP00000396024.1:p.Ala8045= | |
| ENST00000672169.1:c.83G>A | ||
| ENST00000673173.1:c.262G>A | ||
| ENST00000673451.1:c.120G>A | ENSP00000500189.1:p.Ala40= | |
| ENST00000341594.9:c.23133G>A | ENSP00000341887.6:p.Ala7711= | |
| ENST00000347037.9:n.1027G>A | ||
| ENST00000354674.4:c.813G>A | ENSP00000346701.4:p.Ala271= | |
| ENST00000367251.7:c.3114G>A | ENSP00000356220.3:p.Ala1038= | |
| ENST00000367255.9:c.24348G>A | ENSP00000356224.5:p.Ala8116= | |
| ENST00000367256.9:n.8040G>A | ||
| ENST00000367257.8:c.2286G>A | ENSP00000356226.4:p.Ala762= | |
| ENST00000409694.6:n.7932G>A | ||
| ENST00000423061.5:c.24135G>A | ENSP00000396024.1:p.Ala8045= | |
| ENST00000460912.6:n.893G>A | ||
| ENST00000476519.1:n.410G>A | ||
| ENST00000536990.5:n.1185G>A | ||
| ENST00000539504.5:c.813G>A | ENSP00000441052.1:p.Ala271= | |
| NM_033071.3:c.24135G>A | NP_149062.1:p.Ala8045= | |
| NM_182961.3:c.24348G>A | NP_892006.3:p.Ala8116= | |
| XM_006715407.1:c.24384G>A | XP_006715470.1:p.Ala8128= | |
| XM_006715408.1:c.24372G>A | XP_006715471.1:p.Ala8124= | |
| XM_006715409.1:c.24363G>A | XP_006715472.1:p.Ala8121= | |
| XM_006715410.1:c.24384G>A | XP_006715473.1:p.Ala8128= | |
| XM_006715411.1:c.24333G>A | XP_006715474.1:p.Ala8111= | |
| XM_006715412.1:c.24369G>A | XP_006715475.1:p.Ala8123= | |
| XM_006715413.1:c.24384G>A | XP_006715476.1:p.Ala8128= | |
| XM_006715414.1:c.24312G>A | XP_006715477.1:p.Ala8104= | |
| XM_006715415.1:c.24384G>A | XP_006715478.1:p.Ala8128= | |
| XM_006715416.1:c.24369G>A | XP_006715479.1:p.Ala8123= | |
| XM_006715417.1:c.24243G>A | XP_006715480.1:p.Ala8081= | |
| XM_006715420.1:c.24231G>A | XP_006715483.1:p.Ala8077= | |
| XM_006715421.1:c.24228G>A | XP_006715484.1:p.Ala8076= | |
| XM_006715422.1:c.24225G>A | XP_006715485.1:p.Ala8075= | |
| XM_006715423.1:c.24384G>A | XP_006715486.1:p.Ala8128= | |
| XM_006715424.1:c.24384G>A | XP_006715487.1:p.Ala8128= | |
| XM_006715425.1:c.24384G>A | XP_006715488.1:p.Ala8128= | |
| XM_011535641.1:c.24381G>A | XP_011533943.1:p.Ala8127= | |
| XM_011535642.1:c.24369G>A | XP_011533944.1:p.Ala8123= | |
| XM_011535643.1:c.24219G>A | XP_011533945.1:p.Ala8073= | |
| XM_011535644.1:c.22659G>A | XP_011533946.1:p.Ala7553= | |
| XM_011535645.1:c.22152G>A | XP_011533947.1:p.Ala7384= | |
| XM_011535647.1:c.17619G>A | XP_011533949.1:p.Ala5873= | |
| NM_001347701.1:c.954G>A | NP_001334630.1:p.Ala318= | |
| NM_001347702.1:c.813G>A | NP_001334631.1:p.Ala271= | |
| XM_006715408.2:c.24372G>A | XP_006715471.1:p.Ala8124= | |
| XM_006715410.2:c.24384G>A | XP_006715473.1:p.Ala8128= | |
| XM_006715412.2:c.24369G>A | XP_006715475.1:p.Ala8123= | |
| XM_006715413.2:c.24384G>A | XP_006715476.1:p.Ala8128= | |
| XM_006715415.2:c.24384G>A | XP_006715478.1:p.Ala8128= | |
| XM_006715416.2:c.24369G>A | XP_006715479.1:p.Ala8123= | |
| XM_006715417.2:c.24243G>A | XP_006715480.1:p.Ala8081= | |
| XM_006715420.2:c.24231G>A | XP_006715483.1:p.Ala8077= | |
| XM_006715421.2:c.24228G>A | XP_006715484.1:p.Ala8076= | |
| XM_006715423.2:c.24384G>A | XP_006715486.1:p.Ala8128= | |
| XM_006715424.2:c.24384G>A | XP_006715487.1:p.Ala8128= | |
| XM_006715425.2:c.24384G>A | XP_006715488.1:p.Ala8128= | |
| XM_011535641.2:c.24381G>A | XP_011533943.1:p.Ala8127= | |
| XM_011535642.2:c.24369G>A | XP_011533944.1:p.Ala8123= | |
| XM_011535645.2:c.22152G>A | XP_011533947.1:p.Ala7384= | |
| XM_017010608.1:c.24384G>A | XP_016866097.1:p.Ala8128= | |
| XM_017010609.1:c.24384G>A | XP_016866098.1:p.Ala8128= | |
| XM_017010610.1:c.24363G>A | XP_016866099.1:p.Ala8121= | |
| XM_017010611.2:c.24357G>A | XP_016866100.1:p.Ala8119= | |
| XM_017010612.1:c.24306G>A | XP_016866101.1:p.Ala8102= | |
| XM_017010613.1:c.24381G>A | XP_016866102.1:p.Ala8127= | |
| XM_017010614.1:c.24228G>A | XP_016866103.1:p.Ala8076= | |
| XM_017010615.1:c.24228G>A | XP_016866104.1:p.Ala8076= | |
| XM_017010616.1:c.24384G>A | XP_016866105.1:p.Ala8128= | |
| XM_017010617.1:c.24381G>A | XP_016866106.1:p.Ala8127= | |
| XM_017010618.1:c.24369G>A | XP_016866107.1:p.Ala8123= | |
| XM_017010619.1:c.22659G>A | XP_016866108.1:p.Ala7553= | |
| NM_182961.4:c.24348G>A MANE Select | NP_892006.3:p.Ala8116= | |
| NM_001347701.2:c.954G>A | NP_001334630.1:p.Ala318= | |
| NM_001347702.2:c.813G>A MANE Plus Clinical | NP_001334631.1:p.Ala271= | |
| NM_033071.5:c.24135G>A | NP_149062.2:p.Ala8045= |