Linked Data
ClinVar Variation Id:
76198
dbSNP Id:
rs267600862
ExAC:
6:152476160 C / T
gnomAD v2:
6-152476160-C-T
gnomAD v3:
6-152155025-C-T
gnomAD v4:
6-152155025-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152155025C>T , CM000668.2:g.152155025C>T | GRCh38 |
| NC_000006.11:g.152476160C>T , CM000668.1:g.152476160C>T | GRCh37 |
| NC_000006.10:g.152517853C>T | NCBI36 |
| NG_012855.1:g.487375G>A | |
| NG_012855.2:g.487375G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.461G>A MANE Plus Clinical | ENSP00000346701.4:p.Arg154Gln | |
| ENST00000367255.10:c.23996G>A MANE Select | ENSP00000356224.5:p.Arg7999Gln | |
| ENST00000423061.6:c.23783G>A | ENSP00000396024.1:p.Arg7928Gln | |
| ENST00000341594.9:c.22781G>A | ENSP00000341887.6:p.Arg7594Gln | |
| ENST00000347037.9:n.675G>A | ||
| ENST00000354674.4:c.461G>A | ENSP00000346701.4:p.Arg154Gln | |
| ENST00000367251.7:c.2762G>A | ENSP00000356220.3:p.Arg921Gln | |
| ENST00000367255.9:c.23996G>A | ENSP00000356224.5:p.Arg7999Gln | |
| ENST00000367256.9:n.7688G>A | ||
| ENST00000367257.8:c.1934G>A | ENSP00000356226.4:p.Arg645Gln | |
| ENST00000409694.6:n.7580G>A | ||
| ENST00000423061.5:c.23783G>A | ENSP00000396024.1:p.Arg7928Gln | |
| ENST00000460912.6:n.541G>A | ||
| ENST00000476519.1:n.58G>A | ||
| ENST00000490866.2:n.371G>A | ||
| ENST00000536990.5:n.833G>A | ||
| ENST00000539504.5:c.461G>A | ENSP00000441052.1:p.Arg154Gln | |
| NM_033071.3:c.23783G>A | NP_149062.1:p.Arg7928Gln | |
| NM_182961.3:c.23996G>A | NP_892006.3:p.Arg7999Gln | |
| XM_006715407.1:c.24032G>A | XP_006715470.1:p.Arg8011Gln | |
| XM_006715408.1:c.24020G>A | XP_006715471.1:p.Arg8007Gln | |
| XM_006715409.1:c.24011G>A | XP_006715472.1:p.Arg8004Gln | |
| XM_006715410.1:c.24032G>A | XP_006715473.1:p.Arg8011Gln | |
| XM_006715411.1:c.23981G>A | XP_006715474.1:p.Arg7994Gln | |
| XM_006715412.1:c.24017G>A | XP_006715475.1:p.Arg8006Gln | |
| XM_006715413.1:c.24032G>A | XP_006715476.1:p.Arg8011Gln | |
| XM_006715414.1:c.23960G>A | XP_006715477.1:p.Arg7987Gln | |
| XM_006715415.1:c.24032G>A | XP_006715478.1:p.Arg8011Gln | |
| XM_006715416.1:c.24017G>A | XP_006715479.1:p.Arg8006Gln | |
| XM_006715417.1:c.23891G>A | XP_006715480.1:p.Arg7964Gln | |
| XM_006715420.1:c.23879G>A | XP_006715483.1:p.Arg7960Gln | |
| XM_006715421.1:c.23876G>A | XP_006715484.1:p.Arg7959Gln | |
| XM_006715422.1:c.23873G>A | XP_006715485.1:p.Arg7958Gln | |
| XM_006715423.1:c.24032G>A | XP_006715486.1:p.Arg8011Gln | |
| XM_006715424.1:c.24032G>A | XP_006715487.1:p.Arg8011Gln | |
| XM_006715425.1:c.24032G>A | XP_006715488.1:p.Arg8011Gln | |
| XM_011535641.1:c.24029G>A | XP_011533943.1:p.Arg8010Gln | |
| XM_011535642.1:c.24017G>A | XP_011533944.1:p.Arg8006Gln | |
| XM_011535643.1:c.23867G>A | XP_011533945.1:p.Arg7956Gln | |
| XM_011535644.1:c.22307G>A | XP_011533946.1:p.Arg7436Gln | |
| XM_011535645.1:c.21800G>A | XP_011533947.1:p.Arg7267Gln | |
| XM_011535647.1:c.17267G>A | XP_011533949.1:p.Arg5756Gln | |
| NM_001347701.1:c.602G>A | NP_001334630.1:p.Arg201Gln | |
| NM_001347702.1:c.461G>A | NP_001334631.1:p.Arg154Gln | |
| XM_006715408.2:c.24020G>A | XP_006715471.1:p.Arg8007Gln | |
| XM_006715410.2:c.24032G>A | XP_006715473.1:p.Arg8011Gln | |
| XM_006715412.2:c.24017G>A | XP_006715475.1:p.Arg8006Gln | |
| XM_006715413.2:c.24032G>A | XP_006715476.1:p.Arg8011Gln | |
| XM_006715415.2:c.24032G>A | XP_006715478.1:p.Arg8011Gln | |
| XM_006715416.2:c.24017G>A | XP_006715479.1:p.Arg8006Gln | |
| XM_006715417.2:c.23891G>A | XP_006715480.1:p.Arg7964Gln | |
| XM_006715420.2:c.23879G>A | XP_006715483.1:p.Arg7960Gln | |
| XM_006715421.2:c.23876G>A | XP_006715484.1:p.Arg7959Gln | |
| XM_006715423.2:c.24032G>A | XP_006715486.1:p.Arg8011Gln | |
| XM_006715424.2:c.24032G>A | XP_006715487.1:p.Arg8011Gln | |
| XM_006715425.2:c.24032G>A | XP_006715488.1:p.Arg8011Gln | |
| XM_011535641.2:c.24029G>A | XP_011533943.1:p.Arg8010Gln | |
| XM_011535642.2:c.24017G>A | XP_011533944.1:p.Arg8006Gln | |
| XM_011535645.2:c.21800G>A | XP_011533947.1:p.Arg7267Gln | |
| XM_017010608.1:c.24032G>A | XP_016866097.1:p.Arg8011Gln | |
| XM_017010609.1:c.24032G>A | XP_016866098.1:p.Arg8011Gln | |
| XM_017010610.1:c.24011G>A | XP_016866099.1:p.Arg8004Gln | |
| XM_017010611.2:c.24005G>A | XP_016866100.1:p.Arg8002Gln | |
| XM_017010612.1:c.23954G>A | XP_016866101.1:p.Arg7985Gln | |
| XM_017010613.1:c.24029G>A | XP_016866102.1:p.Arg8010Gln | |
| XM_017010614.1:c.23876G>A | XP_016866103.1:p.Arg7959Gln | |
| XM_017010615.1:c.23876G>A | XP_016866104.1:p.Arg7959Gln | |
| XM_017010616.1:c.24032G>A | XP_016866105.1:p.Arg8011Gln | |
| XM_017010617.1:c.24029G>A | XP_016866106.1:p.Arg8010Gln | |
| XM_017010618.1:c.24017G>A | XP_016866107.1:p.Arg8006Gln | |
| XM_017010619.1:c.22307G>A | XP_016866108.1:p.Arg7436Gln | |
| NM_182961.4:c.23996G>A MANE Select | NP_892006.3:p.Arg7999Gln | |
| NM_001347701.2:c.602G>A | NP_001334630.1:p.Arg201Gln | |
| NM_001347702.2:c.461G>A MANE Plus Clinical | NP_001334631.1:p.Arg154Gln | |
| NM_033071.5:c.23783G>A | NP_149062.2:p.Arg7928Gln |