Linked Data
ClinVar Variation Id:
212342
ClinVar RCV Id:
RCV000194323
dbSNP Id:
rs797046025
gnomAD v3:
6-152143733-G-A
gnomAD v4:
6-152143733-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152143733G>A , CM000668.2:g.152143733G>A | GRCh38 |
| NC_000006.11:g.152464868G>A , CM000668.1:g.152464868G>A | GRCh37 |
| NC_000006.10:g.152506561G>A | NCBI36 |
| NG_012855.1:g.498667C>T | |
| NG_012855.2:g.498667C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354674.5:c.1543C>T MANE Plus Clinical | ENSP00000346701.4:p.Gln515Ter | |
| ENST00000367255.10:c.25009C>T MANE Select | ENSP00000356224.5:p.Gln8337Ter | |
| ENST00000423061.6:c.24865C>T | ENSP00000396024.1:p.Gln8289Ter | |
| ENST00000672154.1:c.411C>T | ||
| ENST00000672169.1:c.744C>T | ||
| ENST00000673173.1:c.891-3572C>T | ||
| ENST00000673451.1:c.781C>T | ENSP00000500189.1:p.Gln261Ter | |
| ENST00000341594.9:c.23794C>T | ENSP00000341887.6:p.Gln7932Ter | |
| ENST00000347037.9:n.1757C>T | ||
| ENST00000354674.4:c.1543C>T | ENSP00000346701.4:p.Gln515Ter | |
| ENST00000367251.7:c.3844C>T | ENSP00000356220.3:p.Gln1282Ter | |
| ENST00000367255.9:c.25009C>T | ENSP00000356224.5:p.Gln8337Ter | |
| ENST00000367256.9:n.8701C>T | ||
| ENST00000367257.8:c.2947C>T | ENSP00000356226.4:p.Gln983Ter | |
| ENST00000409694.6:n.8593C>T | ||
| ENST00000423061.5:c.24865C>T | ENSP00000396024.1:p.Gln8289Ter | |
| ENST00000460912.6:n.1623C>T | ||
| ENST00000478916.5:n.4031C>T | ||
| ENST00000536990.5:n.1846C>T | ||
| ENST00000539504.5:c.1474C>T | ENSP00000441052.1:p.Gln492Ter | |
| NM_033071.3:c.24865C>T | NP_149062.1:p.Gln8289Ter | |
| NM_182961.3:c.25009C>T | NP_892006.3:p.Gln8337Ter | |
| XM_006715407.1:c.25114C>T | XP_006715470.1:p.Gln8372Ter | |
| XM_006715408.1:c.25102C>T | XP_006715471.1:p.Gln8368Ter | |
| XM_006715409.1:c.25093C>T | XP_006715472.1:p.Gln8365Ter | |
| XM_006715410.1:c.25114C>T | XP_006715473.1:p.Gln8372Ter | |
| XM_006715411.1:c.25063C>T | XP_006715474.1:p.Gln8355Ter | |
| XM_006715412.1:c.25099C>T | XP_006715475.1:p.Gln8367Ter | |
| XM_006715413.1:c.25045C>T | XP_006715476.1:p.Gln8349Ter | |
| XM_006715414.1:c.25042C>T | XP_006715477.1:p.Gln8348Ter | |
| XM_006715415.1:c.25045C>T | XP_006715478.1:p.Gln8349Ter | |
| XM_006715416.1:c.25030C>T | XP_006715479.1:p.Gln8344Ter | |
| XM_006715417.1:c.24973C>T | XP_006715480.1:p.Gln8325Ter | |
| XM_006715420.1:c.24961C>T | XP_006715483.1:p.Gln8321Ter | |
| XM_006715421.1:c.24958C>T | XP_006715484.1:p.Gln8320Ter | |
| XM_006715422.1:c.24955C>T | XP_006715485.1:p.Gln8319Ter | |
| XM_006715423.1:c.25114C>T | XP_006715486.1:p.Gln8372Ter | |
| XM_006715424.1:c.25114C>T | XP_006715487.1:p.Gln8372Ter | |
| XM_006715425.1:c.25045C>T | XP_006715488.1:p.Gln8349Ter | |
| XM_011535641.1:c.25111C>T | XP_011533943.1:p.Gln8371Ter | |
| XM_011535642.1:c.25099C>T | XP_011533944.1:p.Gln8367Ter | |
| XM_011535643.1:c.24949C>T | XP_011533945.1:p.Gln8317Ter | |
| XM_011535644.1:c.23389C>T | XP_011533946.1:p.Gln7797Ter | |
| XM_011535645.1:c.22882C>T | XP_011533947.1:p.Gln7628Ter | |
| XM_011535647.1:c.18349C>T | XP_011533949.1:p.Gln6117Ter | |
| NM_001347701.1:c.1615C>T | NP_001334630.1:p.Gln539Ter | |
| NM_001347702.1:c.1543C>T | NP_001334631.1:p.Gln515Ter | |
| XM_006715408.2:c.25102C>T | XP_006715471.1:p.Gln8368Ter | |
| XM_006715410.2:c.25114C>T | XP_006715473.1:p.Gln8372Ter | |
| XM_006715412.2:c.25099C>T | XP_006715475.1:p.Gln8367Ter | |
| XM_006715413.2:c.25045C>T | XP_006715476.1:p.Gln8349Ter | |
| XM_006715415.2:c.25045C>T | XP_006715478.1:p.Gln8349Ter | |
| XM_006715416.2:c.25030C>T | XP_006715479.1:p.Gln8344Ter | |
| XM_006715417.2:c.24973C>T | XP_006715480.1:p.Gln8325Ter | |
| XM_006715420.2:c.24961C>T | XP_006715483.1:p.Gln8321Ter | |
| XM_006715421.2:c.24958C>T | XP_006715484.1:p.Gln8320Ter | |
| XM_006715423.2:c.25114C>T | XP_006715486.1:p.Gln8372Ter | |
| XM_006715424.2:c.25114C>T | XP_006715487.1:p.Gln8372Ter | |
| XM_006715425.2:c.25045C>T | XP_006715488.1:p.Gln8349Ter | |
| XM_011535641.2:c.25111C>T | XP_011533943.1:p.Gln8371Ter | |
| XM_011535642.2:c.25099C>T | XP_011533944.1:p.Gln8367Ter | |
| XM_011535645.2:c.22882C>T | XP_011533947.1:p.Gln7628Ter | |
| XM_017010608.1:c.25114C>T | XP_016866097.1:p.Gln8372Ter | |
| XM_017010609.1:c.25114C>T | XP_016866098.1:p.Gln8372Ter | |
| XM_017010610.1:c.25093C>T | XP_016866099.1:p.Gln8365Ter | |
| XM_017010611.2:c.25087C>T | XP_016866100.1:p.Gln8363Ter | |
| XM_017010612.1:c.25036C>T | XP_016866101.1:p.Gln8346Ter | |
| XM_017010613.1:c.25042C>T | XP_016866102.1:p.Gln8348Ter | |
| XM_017010614.1:c.24958C>T | XP_016866103.1:p.Gln8320Ter | |
| XM_017010615.1:c.24889C>T | XP_016866104.1:p.Gln8297Ter | |
| XM_017010616.1:c.25045C>T | XP_016866105.1:p.Gln8349Ter | |
| XM_017010617.1:c.25042C>T | XP_016866106.1:p.Gln8348Ter | |
| XM_017010618.1:c.25030C>T | XP_016866107.1:p.Gln8344Ter | |
| XM_017010619.1:c.23389C>T | XP_016866108.1:p.Gln7797Ter | |
| NM_182961.4:c.25009C>T MANE Select | NP_892006.3:p.Gln8337Ter | |
| NM_001347701.2:c.1615C>T | NP_001334630.1:p.Gln539Ter | |
| NM_001347702.2:c.1543C>T MANE Plus Clinical | NP_001334631.1:p.Gln515Ter | |
| NM_033071.5:c.24865C>T | NP_149062.2:p.Gln8289Ter |