Linked Data
dbSNP Id:
rs746552052
ExAC:
2:149225982 C / A
gnomAD v2:
2-149225982-C-A
gnomAD v4:
2-148468413-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.148468413C>A , CM000664.2:g.148468413C>A | GRCh38 |
| NC_000002.11:g.149225982C>A , CM000664.1:g.149225982C>A | GRCh37 |
| NC_000002.10:g.148942452C>A | NCBI36 |
| NG_017003.1:g.452403C>A | |
| NG_017003.2:g.452403C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638043.2:c.470C>A | ENSP00000490728.2:p.Thr157Lys | |
| ENST00000642680.2:c.470C>A MANE Select | ENSP00000493871.2:p.Thr157Lys | |
| ENST00000404807.5:c.470C>A | ENSP00000384672.1:p.Thr157Lys | |
| ENST00000407073.5:c.470C>A | ENSP00000386049.1:p.Thr157Lys | |
| ENST00000627651.2:c.470C>A | ENSP00000486370.1:p.Thr157Lys | |
| ENST00000629878.2:c.470C>A | ENSP00000487089.1:p.Thr157Lys | |
| NM_018328.4:c.470C>A | NP_060798.2:p.Thr157Lys | |
| XM_005263711.2:c.470C>A | XP_005263768.1:p.Thr157Lys | |
| XM_011511470.1:c.470C>A | XP_011509772.1:p.Thr157Lys | |
| XM_011511471.1:c.470C>A | XP_011509773.1:p.Thr157Lys | |
| XM_011511472.1:c.470C>A | XP_011509774.1:p.Thr157Lys | |
| XM_011511473.1:c.470C>A | XP_011509775.1:p.Thr157Lys | |
| XM_011511474.1:c.470C>A | XP_011509776.1:p.Thr157Lys | |
| XM_011511475.1:c.470C>A | XP_011509777.1:p.Thr157Lys | |
| XM_011511476.1:c.470C>A | XP_011509778.1:p.Thr157Lys | |
| XR_922967.1:n.1699C>A | ||
| XM_011511470.2:c.470C>A | XP_011509772.1:p.Thr157Lys | |
| XM_011511472.2:c.470C>A | XP_011509774.1:p.Thr157Lys | |
| XM_024452987.1:c.470C>A | XP_024308755.1:p.Thr157Lys | |
| XM_024452988.1:c.470C>A | XP_024308756.1:p.Thr157Lys | |
| XM_024452989.1:c.470C>A | XP_024308757.1:p.Thr157Lys | |
| XM_024452990.1:c.470C>A | XP_024308758.1:p.Thr157Lys | |
| XR_002959318.1:n.782C>A | ||
| XR_002959319.1:n.782C>A | ||
| NM_001378120.1:c.470C>A MANE Select | NP_001365049.1:p.Thr157Lys | |
| NM_018328.5:c.470C>A | NP_060798.2:p.Thr157Lys |