Linked Data
ClinVar Variation Id:
2330
ClinVar RCV Id:
RCV000002420
dbSNP Id:
rs119103245
PubMed:
PMID:17503513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.152213737G>A , CM000668.2:g.152213737G>A | GRCh38 |
| NC_000006.11:g.152534872G>A , CM000668.1:g.152534872G>A | GRCh37 |
| NC_000006.10:g.152576565G>A | NCBI36 |
| NG_012855.1:g.428663C>T | |
| NG_012855.2:g.428663C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367255.10:c.22369C>T MANE Select | ENSP00000356224.5:p.Gln7457Ter | |
| ENST00000423061.6:c.22156C>T | ENSP00000396024.1:p.Gln7386Ter | |
| ENST00000341594.9:c.21154C>T | ENSP00000341887.6:p.Gln7052Ter | |
| ENST00000367251.7:c.1135C>T | ENSP00000356220.3:p.Gln379Ter | |
| ENST00000367255.9:c.22369C>T | ENSP00000356224.5:p.Gln7457Ter | |
| ENST00000367256.9:n.6061C>T | ||
| ENST00000367257.8:c.307C>T | ENSP00000356226.4:p.Gln103Ter | |
| ENST00000409694.6:n.5953C>T | ||
| ENST00000423061.5:c.22156C>T | ENSP00000396024.1:p.Gln7386Ter | |
| NM_033071.3:c.22156C>T | NP_149062.1:p.Gln7386Ter | |
| NM_182961.3:c.22369C>T | NP_892006.3:p.Gln7457Ter | |
| XM_006715407.1:c.22405C>T | XP_006715470.1:p.Gln7469Ter | |
| XM_006715408.1:c.22393C>T | XP_006715471.1:p.Gln7465Ter | |
| XM_006715409.1:c.22384C>T | XP_006715472.1:p.Gln7462Ter | |
| XM_006715410.1:c.22405C>T | XP_006715473.1:p.Gln7469Ter | |
| XM_006715411.1:c.22354C>T | XP_006715474.1:p.Gln7452Ter | |
| XM_006715412.1:c.22390C>T | XP_006715475.1:p.Gln7464Ter | |
| XM_006715413.1:c.22405C>T | XP_006715476.1:p.Gln7469Ter | |
| XM_006715414.1:c.22333C>T | XP_006715477.1:p.Gln7445Ter | |
| XM_006715415.1:c.22405C>T | XP_006715478.1:p.Gln7469Ter | |
| XM_006715416.1:c.22390C>T | XP_006715479.1:p.Gln7464Ter | |
| XM_006715417.1:c.22264C>T | XP_006715480.1:p.Gln7422Ter | |
| XM_006715420.1:c.22252C>T | XP_006715483.1:p.Gln7418Ter | |
| XM_006715421.1:c.22249C>T | XP_006715484.1:p.Gln7417Ter | |
| XM_006715422.1:c.22246C>T | XP_006715485.1:p.Gln7416Ter | |
| XM_006715423.1:c.22405C>T | XP_006715486.1:p.Gln7469Ter | |
| XM_006715424.1:c.22405C>T | XP_006715487.1:p.Gln7469Ter | |
| XM_006715425.1:c.22405C>T | XP_006715488.1:p.Gln7469Ter | |
| XM_011535641.1:c.22402C>T | XP_011533943.1:p.Gln7468Ter | |
| XM_011535642.1:c.22390C>T | XP_011533944.1:p.Gln7464Ter | |
| XM_011535643.1:c.22240C>T | XP_011533945.1:p.Gln7414Ter | |
| XM_011535644.1:c.20680C>T | XP_011533946.1:p.Gln6894Ter | |
| XM_011535645.1:c.20173C>T | XP_011533947.1:p.Gln6725Ter | |
| XM_011535647.1:c.15640C>T | XP_011533949.1:p.Gln5214Ter | |
| XM_006715408.2:c.22393C>T | XP_006715471.1:p.Gln7465Ter | |
| XM_006715410.2:c.22405C>T | XP_006715473.1:p.Gln7469Ter | |
| XM_006715412.2:c.22390C>T | XP_006715475.1:p.Gln7464Ter | |
| XM_006715413.2:c.22405C>T | XP_006715476.1:p.Gln7469Ter | |
| XM_006715415.2:c.22405C>T | XP_006715478.1:p.Gln7469Ter | |
| XM_006715416.2:c.22390C>T | XP_006715479.1:p.Gln7464Ter | |
| XM_006715417.2:c.22264C>T | XP_006715480.1:p.Gln7422Ter | |
| XM_006715420.2:c.22252C>T | XP_006715483.1:p.Gln7418Ter | |
| XM_006715421.2:c.22249C>T | XP_006715484.1:p.Gln7417Ter | |
| XM_006715423.2:c.22405C>T | XP_006715486.1:p.Gln7469Ter | |
| XM_006715424.2:c.22405C>T | XP_006715487.1:p.Gln7469Ter | |
| XM_006715425.2:c.22405C>T | XP_006715488.1:p.Gln7469Ter | |
| XM_011535641.2:c.22402C>T | XP_011533943.1:p.Gln7468Ter | |
| XM_011535642.2:c.22390C>T | XP_011533944.1:p.Gln7464Ter | |
| XM_011535645.2:c.20173C>T | XP_011533947.1:p.Gln6725Ter | |
| XM_017010608.1:c.22405C>T | XP_016866097.1:p.Gln7469Ter | |
| XM_017010609.1:c.22405C>T | XP_016866098.1:p.Gln7469Ter | |
| XM_017010610.1:c.22384C>T | XP_016866099.1:p.Gln7462Ter | |
| XM_017010611.2:c.22378C>T | XP_016866100.1:p.Gln7460Ter | |
| XM_017010612.1:c.22327C>T | XP_016866101.1:p.Gln7443Ter | |
| XM_017010613.1:c.22402C>T | XP_016866102.1:p.Gln7468Ter | |
| XM_017010614.1:c.22249C>T | XP_016866103.1:p.Gln7417Ter | |
| XM_017010615.1:c.22249C>T | XP_016866104.1:p.Gln7417Ter | |
| XM_017010616.1:c.22405C>T | XP_016866105.1:p.Gln7469Ter | |
| XM_017010617.1:c.22402C>T | XP_016866106.1:p.Gln7468Ter | |
| XM_017010618.1:c.22390C>T | XP_016866107.1:p.Gln7464Ter | |
| XM_017010619.1:c.20680C>T | XP_016866108.1:p.Gln6894Ter | |
| NM_182961.4:c.22369C>T MANE Select | NP_892006.3:p.Gln7457Ter | |
| NM_033071.5:c.22156C>T | NP_149062.2:p.Gln7386Ter |