Linked Data
ClinVar Variation Id:
355807
dbSNP Id:
rs746159592
ExAC:
6:152453347 A / G
gnomAD v2:
6-152453347-A-G
gnomAD v4:
6-152132212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152132212A>G , CM000668.2:g.152132212A>G | GRCh38 |
| NC_000006.11:g.152453347A>G , CM000668.1:g.152453347A>G | GRCh37 |
| NC_000006.10:g.152495040A>G | NCBI36 |
| NG_012855.1:g.510188T>C | |
| NG_012855.2:g.510188T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.2538T>C MANE Plus Clinical | ENSP00000346701.4:p.Asp846= | |
| ENST00000367255.10:c.26004T>C MANE Select | ENSP00000356224.5:p.Asp8668= | |
| ENST00000423061.6:c.25860T>C | ENSP00000396024.1:p.Asp8620= | |
| ENST00000672154.1:c.1406T>C | ||
| ENST00000672169.1:c.1781T>C | ||
| ENST00000673173.1:c.1648T>C | ||
| ENST00000673451.1:c.1854T>C | ENSP00000500189.1:n.1854T>C | |
| ENST00000341594.9:c.24789T>C | ENSP00000341887.6:p.Asp8263= | |
| ENST00000347037.9:n.2752T>C | ||
| ENST00000354674.4:c.2538T>C | ENSP00000346701.4:p.Asp846= | |
| ENST00000367251.7:c.4839T>C | ENSP00000356220.3:p.Asp1613= | |
| ENST00000367255.9:c.26004T>C | ENSP00000356224.5:p.Asp8668= | |
| ENST00000367256.9:n.9696T>C | ||
| ENST00000367257.8:c.3942T>C | ENSP00000356226.4:p.Asp1314= | |
| ENST00000409694.6:n.9588T>C | ||
| ENST00000423061.5:c.25860T>C | ENSP00000396024.1:p.Asp8620= | |
| ENST00000460912.6:n.2618T>C | ||
| ENST00000478916.5:n.6641T>C | ||
| ENST00000536990.5:n.2841T>C | ||
| ENST00000539504.5:c.2469T>C | ENSP00000441052.1:p.Asp823= | |
| NM_033071.3:c.25860T>C | NP_149062.1:p.Asp8620= | |
| NM_182961.3:c.26004T>C | NP_892006.3:p.Asp8668= | |
| XM_006715407.1:c.26151T>C | XP_006715470.1:p.Asp8717= | |
| XM_006715408.1:c.26139T>C | XP_006715471.1:p.Asp8713= | |
| XM_006715409.1:c.26130T>C | XP_006715472.1:p.Asp8710= | |
| XM_006715410.1:c.26109T>C | XP_006715473.1:p.Asp8703= | |
| XM_006715411.1:c.26100T>C | XP_006715474.1:p.Asp8700= | |
| XM_006715412.1:c.26094T>C | XP_006715475.1:p.Asp8698= | |
| XM_006715413.1:c.26082T>C | XP_006715476.1:p.Asp8694= | |
| XM_006715414.1:c.26079T>C | XP_006715477.1:p.Asp8693= | |
| XM_006715415.1:c.26040T>C | XP_006715478.1:p.Asp8680= | |
| XM_006715416.1:c.26025T>C | XP_006715479.1:p.Asp8675= | |
| XM_006715417.1:c.26010T>C | XP_006715480.1:p.Asp8670= | |
| XM_006715420.1:c.25998T>C | XP_006715483.1:p.Asp8666= | |
| XM_006715421.1:c.25995T>C | XP_006715484.1:p.Asp8665= | |
| XM_006715422.1:c.25992T>C | XP_006715485.1:p.Asp8664= | |
| XM_006715423.1:c.26151T>C | XP_006715486.1:p.Asp8717= | |
| XM_006715424.1:c.26109T>C | XP_006715487.1:p.Asp8703= | |
| XM_006715425.1:c.26040T>C | XP_006715488.1:p.Asp8680= | |
| XM_011535641.1:c.26148T>C | XP_011533943.1:p.Asp8716= | |
| XM_011535642.1:c.26136T>C | XP_011533944.1:p.Asp8712= | |
| XM_011535643.1:c.25986T>C | XP_011533945.1:p.Asp8662= | |
| XM_011535644.1:c.24426T>C | XP_011533946.1:p.Asp8142= | |
| XM_011535645.1:c.23919T>C | XP_011533947.1:p.Asp7973= | |
| XM_011535647.1:c.19386T>C | XP_011533949.1:p.Asp6462= | |
| NM_001347701.1:c.2610T>C | NP_001334630.1:p.Asp870= | |
| NM_001347702.1:c.2538T>C | NP_001334631.1:p.Asp846= | |
| XM_006715408.2:c.26139T>C | XP_006715471.1:p.Asp8713= | |
| XM_006715410.2:c.26109T>C | XP_006715473.1:p.Asp8703= | |
| XM_006715412.2:c.26094T>C | XP_006715475.1:p.Asp8698= | |
| XM_006715413.2:c.26082T>C | XP_006715476.1:p.Asp8694= | |
| XM_006715415.2:c.26040T>C | XP_006715478.1:p.Asp8680= | |
| XM_006715416.2:c.26025T>C | XP_006715479.1:p.Asp8675= | |
| XM_006715417.2:c.26010T>C | XP_006715480.1:p.Asp8670= | |
| XM_006715420.2:c.25998T>C | XP_006715483.1:p.Asp8666= | |
| XM_006715421.2:c.25995T>C | XP_006715484.1:p.Asp8665= | |
| XM_006715423.2:c.26151T>C | XP_006715486.1:p.Asp8717= | |
| XM_006715424.2:c.26109T>C | XP_006715487.1:p.Asp8703= | |
| XM_006715425.2:c.26040T>C | XP_006715488.1:p.Asp8680= | |
| XM_011535641.2:c.26148T>C | XP_011533943.1:p.Asp8716= | |
| XM_011535642.2:c.26136T>C | XP_011533944.1:p.Asp8712= | |
| XM_011535645.2:c.23919T>C | XP_011533947.1:p.Asp7973= | |
| XM_017010608.1:c.26151T>C | XP_016866097.1:p.Asp8717= | |
| XM_017010609.1:c.26151T>C | XP_016866098.1:p.Asp8717= | |
| XM_017010610.1:c.26130T>C | XP_016866099.1:p.Asp8710= | |
| XM_017010611.2:c.26124T>C | XP_016866100.1:p.Asp8708= | |
| XM_017010612.1:c.26073T>C | XP_016866101.1:p.Asp8691= | |
| XM_017010613.1:c.26037T>C | XP_016866102.1:p.Asp8679= | |
| XM_017010614.1:c.25995T>C | XP_016866103.1:p.Asp8665= | |
| XM_017010615.1:c.25884T>C | XP_016866104.1:p.Asp8628= | |
| XM_017010616.1:c.26082T>C | XP_016866105.1:p.Asp8694= | |
| XM_017010617.1:c.26037T>C | XP_016866106.1:p.Asp8679= | |
| XM_017010618.1:c.26025T>C | XP_016866107.1:p.Asp8675= | |
| XM_017010619.1:c.24426T>C | XP_016866108.1:p.Asp8142= | |
| NM_182961.4:c.26004T>C MANE Select | NP_892006.3:p.Asp8668= | |
| NM_001347701.2:c.2610T>C | NP_001334630.1:p.Asp870= | |
| NM_001347702.2:c.2538T>C MANE Plus Clinical | NP_001334631.1:p.Asp846= | |
| NM_033071.5:c.25860T>C | NP_149062.2:p.Asp8620= |