Linked Data
ClinVar Variation Id:
265243
dbSNP Id:
rs777327250
ExAC:
10:74268018 G / A
gnomAD v2:
10-74268018-G-A
gnomAD v3:
10-72508260-G-A
gnomAD v4:
10-72508260-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72508260G>A , CM000672.2:g.72508260G>A | GRCh38 |
| NC_000010.10:g.74268018G>A , CM000672.1:g.74268018G>A | GRCh37 |
| NC_000010.9:g.73938024G>A | NCBI36 |
| NG_033179.1:g.122932C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361114.10:c.547C>T MANE Select | ENSP00000354415.5:p.Gln183Ter | |
| ENST00000642044.1:c.565C>T | ENSP00000493232.1:p.Gln189Ter | |
| ENST00000361114.9:c.547C>T | ENSP00000354415.5:p.Gln183Ter | |
| ENST00000398761.8:c.553C>T | ENSP00000381745.5:p.Gln185Ter | |
| ENST00000398763.8:c.-159C>T | ENSP00000381747.4:n.-159C>T | |
| ENST00000418483.6:c.58+15542C>T | ENSP00000402470.2:n.58+15542C>T | |
| ENST00000476605.7:c.74C>T | ||
| ENST00000489666.2:c.58+15542C>T | ENSP00000474809.1:n.58+15542C>T | |
| ENST00000603011.5:c.445C>T | ENSP00000474192.1:p.Gln149Ter | |
| ENST00000604238.2:c.946C>T | ENSP00000474775.2:p.Gln316Ter | |
| ENST00000604529.1:n.366C>T | ||
| ENST00000635239.1:c.559C>T | ENSP00000489563.1:p.Gln187Ter | |
| NM_001195518.1:c.547C>T | NP_001182447.1:p.Gln183Ter | |
| NM_001195519.1:c.58+15542C>T | NP_001182448.1:n.58+15542C>T | |
| NM_006077.3:c.553C>T | NP_006068.2:p.Gln185Ter | |
| XM_005269383.1:c.565C>T | XP_005269440.1:p.Gln189Ter | |
| XM_005269384.1:c.559C>T | XP_005269441.1:p.Gln187Ter | |
| XM_005269386.1:c.-138C>T | XP_005269443.1:n.-138C>T | |
| XM_011539119.1:c.715C>T | XP_011537421.1:p.Gln239Ter | |
| XR_945585.1:n.802C>T | ||
| XR_945586.1:n.634C>T | ||
| NM_001363513.1:c.565C>T | NP_001350442.1:p.Gln189Ter | |
| XM_005269386.2:c.-138C>T | XP_005269443.1:n.-138C>T | |
| XR_001746993.2:n.803C>T | ||
| XR_001746994.2:n.641C>T | ||
| XR_945586.2:n.635C>T | ||
| NM_001195518.2:c.547C>T MANE Select | NP_001182447.1:p.Gln183Ter | |
| NM_001195519.2:c.58+15542C>T | NP_001182448.1:n.58+15542C>T | |
| NM_001363513.2:c.565C>T | NP_001350442.1:p.Gln189Ter | |
| NM_006077.4:c.553C>T | NP_006068.2:p.Gln185Ter |