Linked Data
ClinVar Variation Id:
2334
dbSNP Id:
rs119103248
ExAC:
6:152461162 C / T
gnomAD v2:
6-152461162-C-T
gnomAD v3:
6-152140027-C-T
gnomAD v4:
6-152140027-C-T
PubMed:
PMID:17761684
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152140027C>T , CM000668.2:g.152140027C>T | GRCh38 |
| NC_000006.11:g.152461162C>T , CM000668.1:g.152461162C>T | GRCh37 |
| NC_000006.10:g.152502855C>T | NCBI36 |
| NG_012855.1:g.502373G>A | |
| NG_012855.2:g.502373G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354674.5:c.1915G>A MANE Plus Clinical | ENSP00000346701.4:p.Glu639Lys | |
| ENST00000367255.10:c.25381G>A MANE Select | ENSP00000356224.5:p.Glu8461Lys | |
| ENST00000423061.6:c.25237G>A | ENSP00000396024.1:p.Glu8413Lys | |
| ENST00000672154.1:c.783G>A | ||
| ENST00000672169.1:c.1116G>A | ||
| ENST00000673173.1:c.1025G>A | ||
| ENST00000673451.1:c.1153G>A | ENSP00000500189.1:p.Glu385Lys | |
| ENST00000341594.9:c.24166G>A | ENSP00000341887.6:p.Glu8056Lys | |
| ENST00000347037.9:n.2129G>A | ||
| ENST00000354674.4:c.1915G>A | ENSP00000346701.4:p.Glu639Lys | |
| ENST00000367251.7:c.4216G>A | ENSP00000356220.3:p.Glu1406Lys | |
| ENST00000367255.9:c.25381G>A | ENSP00000356224.5:p.Glu8461Lys | |
| ENST00000367256.9:n.9073G>A | ||
| ENST00000367257.8:c.3319G>A | ENSP00000356226.4:p.Glu1107Lys | |
| ENST00000409694.6:n.8965G>A | ||
| ENST00000423061.5:c.25237G>A | ENSP00000396024.1:p.Glu8413Lys | |
| ENST00000460912.6:n.1995G>A | ||
| ENST00000478916.5:n.4403G>A | ||
| ENST00000536990.5:n.2218G>A | ||
| ENST00000539504.5:c.1846G>A | ENSP00000441052.1:p.Glu616Lys | |
| NM_033071.3:c.25237G>A | NP_149062.1:p.Glu8413Lys | |
| NM_182961.3:c.25381G>A | NP_892006.3:p.Glu8461Lys | |
| XM_006715407.1:c.25486G>A | XP_006715470.1:p.Glu8496Lys | |
| XM_006715408.1:c.25474G>A | XP_006715471.1:p.Glu8492Lys | |
| XM_006715409.1:c.25465G>A | XP_006715472.1:p.Glu8489Lys | |
| XM_006715410.1:c.25486G>A | XP_006715473.1:p.Glu8496Lys | |
| XM_006715411.1:c.25435G>A | XP_006715474.1:p.Glu8479Lys | |
| XM_006715412.1:c.25471G>A | XP_006715475.1:p.Glu8491Lys | |
| XM_006715413.1:c.25417G>A | XP_006715476.1:p.Glu8473Lys | |
| XM_006715414.1:c.25414G>A | XP_006715477.1:p.Glu8472Lys | |
| XM_006715415.1:c.25417G>A | XP_006715478.1:p.Glu8473Lys | |
| XM_006715416.1:c.25402G>A | XP_006715479.1:p.Glu8468Lys | |
| XM_006715417.1:c.25345G>A | XP_006715480.1:p.Glu8449Lys | |
| XM_006715420.1:c.25333G>A | XP_006715483.1:p.Glu8445Lys | |
| XM_006715421.1:c.25330G>A | XP_006715484.1:p.Glu8444Lys | |
| XM_006715422.1:c.25327G>A | XP_006715485.1:p.Glu8443Lys | |
| XM_006715423.1:c.25486G>A | XP_006715486.1:p.Glu8496Lys | |
| XM_006715424.1:c.25486G>A | XP_006715487.1:p.Glu8496Lys | |
| XM_006715425.1:c.25417G>A | XP_006715488.1:p.Glu8473Lys | |
| XM_011535641.1:c.25483G>A | XP_011533943.1:p.Glu8495Lys | |
| XM_011535642.1:c.25471G>A | XP_011533944.1:p.Glu8491Lys | |
| XM_011535643.1:c.25321G>A | XP_011533945.1:p.Glu8441Lys | |
| XM_011535644.1:c.23761G>A | XP_011533946.1:p.Glu7921Lys | |
| XM_011535645.1:c.23254G>A | XP_011533947.1:p.Glu7752Lys | |
| XM_011535647.1:c.18721G>A | XP_011533949.1:p.Glu6241Lys | |
| NM_001347701.1:c.1987G>A | NP_001334630.1:p.Glu663Lys | |
| NM_001347702.1:c.1915G>A | NP_001334631.1:p.Glu639Lys | |
| XM_006715408.2:c.25474G>A | XP_006715471.1:p.Glu8492Lys | |
| XM_006715410.2:c.25486G>A | XP_006715473.1:p.Glu8496Lys | |
| XM_006715412.2:c.25471G>A | XP_006715475.1:p.Glu8491Lys | |
| XM_006715413.2:c.25417G>A | XP_006715476.1:p.Glu8473Lys | |
| XM_006715415.2:c.25417G>A | XP_006715478.1:p.Glu8473Lys | |
| XM_006715416.2:c.25402G>A | XP_006715479.1:p.Glu8468Lys | |
| XM_006715417.2:c.25345G>A | XP_006715480.1:p.Glu8449Lys | |
| XM_006715420.2:c.25333G>A | XP_006715483.1:p.Glu8445Lys | |
| XM_006715421.2:c.25330G>A | XP_006715484.1:p.Glu8444Lys | |
| XM_006715423.2:c.25486G>A | XP_006715486.1:p.Glu8496Lys | |
| XM_006715424.2:c.25486G>A | XP_006715487.1:p.Glu8496Lys | |
| XM_006715425.2:c.25417G>A | XP_006715488.1:p.Glu8473Lys | |
| XM_011535641.2:c.25483G>A | XP_011533943.1:p.Glu8495Lys | |
| XM_011535642.2:c.25471G>A | XP_011533944.1:p.Glu8491Lys | |
| XM_011535645.2:c.23254G>A | XP_011533947.1:p.Glu7752Lys | |
| XM_017010608.1:c.25486G>A | XP_016866097.1:p.Glu8496Lys | |
| XM_017010609.1:c.25486G>A | XP_016866098.1:p.Glu8496Lys | |
| XM_017010610.1:c.25465G>A | XP_016866099.1:p.Glu8489Lys | |
| XM_017010611.2:c.25459G>A | XP_016866100.1:p.Glu8487Lys | |
| XM_017010612.1:c.25408G>A | XP_016866101.1:p.Glu8470Lys | |
| XM_017010613.1:c.25414G>A | XP_016866102.1:p.Glu8472Lys | |
| XM_017010614.1:c.25330G>A | XP_016866103.1:p.Glu8444Lys | |
| XM_017010615.1:c.25261G>A | XP_016866104.1:p.Glu8421Lys | |
| XM_017010616.1:c.25417G>A | XP_016866105.1:p.Glu8473Lys | |
| XM_017010617.1:c.25414G>A | XP_016866106.1:p.Glu8472Lys | |
| XM_017010618.1:c.25402G>A | XP_016866107.1:p.Glu8468Lys | |
| XM_017010619.1:c.23761G>A | XP_016866108.1:p.Glu7921Lys | |
| NM_182961.4:c.25381G>A MANE Select | NP_892006.3:p.Glu8461Lys | |
| NM_001347701.2:c.1987G>A | NP_001334630.1:p.Glu663Lys | |
| NM_001347702.2:c.1915G>A MANE Plus Clinical | NP_001334631.1:p.Glu639Lys | |
| NM_033071.5:c.25237G>A | NP_149062.2:p.Glu8413Lys |