Linked Data
dbSNP Id:
rs143509748
ExAC:
13:95839123 G / A
gnomAD v2:
13-95839123-G-A
gnomAD v3:
13-95186869-G-A
gnomAD v4:
13-95186869-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95186869G>A , CM000675.2:g.95186869G>A | GRCh38 |
| NC_000013.10:g.95839123G>A , CM000675.1:g.95839123G>A | GRCh37 |
| NC_000013.9:g.94637124G>A | NCBI36 |
| NG_050651.1:g.119578C>T | |
| NG_050651.2:g.119578C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642524.1:c.*1410C>T | ENSP00000493766.1:n.*1410C>T | |
| ENST00000643051.1:c.1377C>T | ENSP00000495513.1:p.Leu459= | |
| ENST00000643556.1:c.1518C>T | ENSP00000494938.1:n.1518C>T | |
| ENST00000643816.1:n.1660C>T | ||
| ENST00000643842.1:c.*1423C>T | ENSP00000493861.1:n.*1423C>T | |
| ENST00000644471.1:n.1473C>T | ||
| ENST00000645237.2:c.1377C>T MANE Select | ENSP00000494609.1:p.Leu459= | |
| ENST00000645532.1:c.1416C>T | ENSP00000494431.1:p.Leu472= | |
| ENST00000646439.1:c.1377C>T | ENSP00000494751.1:p.Leu459= | |
| ENST00000376887.8:c.1377C>T | ENSP00000366084.4:p.Leu459= | |
| ENST00000536256.3:c.1152C>T | ENSP00000442024.1:p.Leu384= | |
| ENST00000629385.1:c.1377C>T | ENSP00000487081.1:p.Leu459= | |
| NM_001105515.2:c.1377C>T | NP_001098985.1:p.Leu459= | |
| NM_001301829.1:c.1377C>T | NP_001288758.1:p.Leu459= | |
| NM_001301830.1:c.1152C>T | NP_001288759.1:p.Leu384= | |
| NM_005845.4:c.1377C>T | NP_005836.2:p.Leu459= | |
| XM_005254025.2:c.1248C>T | XP_005254082.1:p.Leu416= | |
| XM_006719914.1:c.1287C>T | XP_006719977.1:p.Leu429= | |
| XM_011521047.1:c.828C>T | XP_011519349.1:p.Leu276= | |
| XM_017020319.1:c.1248C>T | XP_016875808.1:p.Leu416= | |
| XM_017020320.2:c.1377C>T | XP_016875809.1:p.Leu459= | |
| XM_017020322.1:c.1248C>T | XP_016875811.1:p.Leu416= | |
| NM_001105515.3:c.1377C>T | NP_001098985.1:p.Leu459= | |
| NM_001301829.2:c.1377C>T | NP_001288758.1:p.Leu459= | |
| NM_001301830.2:c.1152C>T | NP_001288759.1:p.Leu384= | |
| NM_005845.5:c.1377C>T MANE Select | NP_005836.2:p.Leu459= |