Linked Data
ClinVar Variation Id:
180652
dbSNP Id:
rs200635937
ExAC:
1:168074093 A / T
gnomAD v2:
1-168074093-A-T
gnomAD v3:
1-168104855-A-T
gnomAD v4:
1-168104855-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168104855A>T , CM000663.2:g.168104855A>T | GRCh38 |
| NC_000001.10:g.168074093A>T , CM000663.1:g.168074093A>T | GRCh37 |
| NC_000001.9:g.166340717A>T | NCBI36 |
| NG_053052.1:g.37813T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682931.1:c.-5T>A MANE Select | ENSP00000506967.1:n.-5T>A | |
| ENST00000271357.9:c.47T>A | ENSP00000271357.6:p.Leu16Gln | |
| ENST00000367835.1:c.-5T>A | ENSP00000356809.1:n.-5T>A | |
| ENST00000367836.5:c.-22-7623T>A | ENSP00000356810.1:n.-22-7623T>A | |
| ENST00000367838.5:c.-5T>A | ENSP00000356812.1:n.-5T>A | |
| ENST00000493800.1:n.55T>A | ||
| ENST00000537209.5:c.56T>A | ENSP00000441039.1:p.Leu19Gln | |
| ENST00000539777.5:c.141-7623T>A | ENSP00000437576.1:n.141-7623T>A | |
| ENST00000546300.5:c.33-7623T>A | ENSP00000444348.1:n.33-7623T>A | |
| NM_001267609.1:c.56T>A | NP_001254538.1:p.Leu19Gln | |
| NM_001267610.1:c.-5T>A | NP_001254539.1:n.-5T>A | |
| NM_001267611.1:c.47T>A | NP_001254540.1:p.Leu16Gln | |
| NM_001267612.1:c.-22-7623T>A | NP_001254541.1:n.-22-7623T>A | |
| NM_001267613.1:c.141-7623T>A | NP_001254542.1:n.141-7623T>A | |
| NM_001267614.1:c.33-7623T>A | NP_001254543.1:n.33-7623T>A | |
| NM_153832.2:c.-5T>A | NP_722561.1:n.-5T>A | |
| XM_005245055.2:c.56T>A | XP_005245112.1:p.Leu19Gln | |
| XM_005245056.2:c.-5T>A | XP_005245113.1:n.-5T>A | |
| XM_005245057.3:c.-5T>A | XP_005245114.1:n.-5T>A | |
| XM_006711251.1:c.65T>A | XP_006711314.1:p.Leu22Gln | |
| XM_006711252.1:c.-5T>A | XP_006711315.1:n.-5T>A | |
| XM_006711253.1:c.-5T>A | XP_006711316.1:n.-5T>A | |
| XM_011509370.1:c.65T>A | XP_011507672.1:p.Leu22Gln | |
| XM_011509371.1:c.65T>A | XP_011507673.1:p.Leu22Gln | |
| XM_011509372.1:c.65T>A | XP_011507674.1:p.Leu22Gln | |
| XM_011509373.1:c.65T>A | XP_011507675.1:p.Leu22Gln | |
| XM_011509374.1:c.65T>A | XP_011507676.1:p.Leu22Gln | |
| XM_011509375.1:c.-5T>A | XP_011507677.1:n.-5T>A | |
| XM_011509376.1:c.-5T>A | XP_011507678.1:n.-5T>A | |
| XM_011509377.1:c.-5T>A | XP_011507679.1:n.-5T>A | |
| XM_011509378.1:c.-5T>A | XP_011507680.1:n.-5T>A | |
| NM_001349632.1:c.-5T>A | NP_001336561.1:n.-5T>A | |
| NM_001349633.1:c.-5T>A | NP_001336562.1:n.-5T>A | |
| NM_001349634.1:c.-5T>A | NP_001336563.1:n.-5T>A | |
| NM_001349635.1:c.-22-7623T>A | NP_001336564.1:n.-22-7623T>A | |
| XM_005245057.4:c.-5T>A | XP_005245114.1:n.-5T>A | |
| XM_006711253.2:c.236T>A | XP_006711316.2:p.Leu79Gln | |
| XM_011509371.2:c.65T>A | XP_011507673.1:p.Leu22Gln | |
| XM_011509373.2:c.65T>A | XP_011507675.1:p.Leu22Gln | |
| XM_011509376.2:c.-5T>A | XP_011507678.1:n.-5T>A | |
| NM_001375883.1:c.-5T>A MANE Select | NP_001362812.1:n.-5T>A | |
| NM_001375884.1:c.-5T>A | NP_001362813.1:n.-5T>A | |
| NM_001375885.1:c.-5T>A | NP_001362814.1:n.-5T>A | |
| NM_001267610.2:c.-5T>A | NP_001254539.1:n.-5T>A | |
| NM_001267612.2:c.-22-7623T>A | NP_001254541.1:n.-22-7623T>A | |
| NM_001381909.1:c.-5T>A | NP_001368838.1:n.-5T>A | |
| NM_153832.3:c.-5T>A | NP_722561.1:n.-5T>A |