Linked Data
ClinVar Variation Id:
2471541
ClinVar RCV Id:
RCV004264069
dbSNP Id:
rs747382561
ExAC:
8:135524826 C / T
gnomAD v2:
8-135524826-C-T
gnomAD v3:
8-134512583-C-T
gnomAD v4:
8-134512583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134512583C>T , CM000670.2:g.134512583C>T | GRCh38 |
| NC_000008.10:g.135524826C>T , CM000670.1:g.135524826C>T | GRCh37 |
| NC_000008.9:g.135594008C>T | NCBI36 |
| NG_016356.1:g.205467G>A | |
| NG_016356.2:g.205467G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377838.8:c.3253G>A MANE Select | ENSP00000367069.3:p.Glu1085Lys | |
| ENST00000377838.7:c.3253G>A | ENSP00000367069.3:p.Glu1085Lys | |
| ENST00000429442.6:c.3217G>A | ENSP00000394501.2:p.Glu1073Lys | |
| ENST00000517307.5:n.857G>A | ||
| ENST00000518408.5:n.616G>A | ||
| ENST00000520214.5:c.3217G>A | ENSP00000428483.1:p.Glu1073Lys | |
| ENST00000520356.5:c.3198+8300G>A | ENSP00000427879.1:n.3198+8300G>A | |
| ENST00000520727.5:c.3217G>A | ENSP00000427831.1:p.Glu1073Lys | |
| ENST00000523243.5:c.*422G>A | ENSP00000429930.1:n.*422G>A | |
| ENST00000523399.5:c.3067G>A | ENSP00000429091.1:p.Glu1023Lys | |
| ENST00000523924.5:c.*3235G>A | ENSP00000429050.1:n.*3235G>A | |
| NM_001029939.3:c.3217G>A | NP_001025110.2:p.Glu1073Lys | |
| NM_001167583.2:c.3217G>A | NP_001161055.1:p.Glu1073Lys | |
| NM_001174157.1:c.3067G>A | NP_001167628.1:p.Glu1023Lys | |
| NM_001174158.1:c.3198+8300G>A | NP_001167629.1:n.3198+8300G>A | |
| NM_001289394.1:c.3217G>A | NP_001276323.1:p.Glu1073Lys | |
| NM_020863.3:c.3253G>A | NP_065914.2:p.Glu1085Lys | |
| NR_110323.1:n.3605G>A | ||
| XM_011517203.1:c.3217G>A | XP_011515505.1:p.Glu1073Lys | |
| XM_011517204.1:c.3067G>A | XP_011515506.1:p.Glu1023Lys | |
| XM_011517206.1:c.3217G>A | XP_011515508.1:p.Glu1073Lys | |
| XR_928343.1:n.3234G>A | ||
| XM_011517204.2:c.3067G>A | XP_011515506.1:p.Glu1023Lys | |
| XM_011517206.2:c.3217G>A | XP_011515508.1:p.Glu1073Lys | |
| XM_017013716.1:c.3217G>A | XP_016869205.1:p.Glu1073Lys | |
| XR_001745569.1:n.3145G>A | ||
| XR_928343.2:n.3234G>A | ||
| NM_020863.4:c.3253G>A MANE Select | NP_065914.2:p.Glu1085Lys | |
| NM_001029939.4:c.3217G>A | NP_001025110.2:p.Glu1073Lys | |
| NM_001167583.3:c.3217G>A | NP_001161055.1:p.Glu1073Lys | |
| NM_001174157.2:c.3067G>A | NP_001167628.1:p.Glu1023Lys | |
| NM_001174158.2:c.3198+8300G>A | NP_001167629.1:n.3198+8300G>A | |
| NM_001289394.2:c.3217G>A | NP_001276323.1:p.Glu1073Lys | |
| NR_110323.2:n.3587G>A |