Linked Data
ClinVar Variation Id:
722054
ClinVar RCV Id:
RCV000895644
dbSNP Id:
rs200248107
ExAC:
3:158320712 C / T
gnomAD v2:
3-158320712-C-T
gnomAD v3:
3-158602923-C-T
gnomAD v4:
3-158602923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158602923C>T , CM000665.2:g.158602923C>T | GRCh38 |
| NC_000003.11:g.158320712C>T , CM000665.1:g.158320712C>T | GRCh37 |
| NC_000003.10:g.159803406C>T | NCBI36 |
| NG_027720.1:g.36760C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355893.11:c.685C>T | ENSP00000348157.5:p.Arg229Ter | |
| ENST00000466246.7:c.730C>T MANE Select | ENSP00000417278.2:p.Arg244Ter | |
| ENST00000477042.6:c.655C>T | ENSP00000419637.2:p.Arg219Ter | |
| ENST00000478894.7:c.778C>T | ENSP00000417777.3:p.Arg260Ter | |
| ENST00000491767.6:c.463C>T | ENSP00000420410.2:p.Arg155Ter | |
| ENST00000498592.6:c.601C>T | ENSP00000419636.2:p.Arg201Ter | |
| ENST00000619577.5:c.550C>T | ENSP00000483337.2:p.Arg184Ter | |
| ENST00000650750.1:c.*553C>T | ENSP00000498835.1:n.*553C>T | |
| ENST00000650753.1:c.569-2174C>T | ENSP00000498915.1:n.569-2174C>T | |
| ENST00000651874.1:c.610C>T | ENSP00000498363.1:p.Arg204Ter | |
| ENST00000651984.1:c.733C>T | ENSP00000499162.1:p.Arg245Ter | |
| ENST00000652045.1:c.*351C>T | ENSP00000499194.1:n.*351C>T | |
| ENST00000355893.9:c.685C>T | ENSP00000348157.5:p.Arg229Ter | |
| ENST00000359117.9:c.610C>T | ENSP00000352025.5:p.Arg204Ter | |
| ENST00000392822.4:c.778C>T | ENSP00000376568.3:p.Arg260Ter | |
| ENST00000469452.5:c.481C>T | ENSP00000418595.1:p.Arg161Ter | |
| ENST00000471745.5:c.655C>T | ENSP00000420134.1:p.Arg219Ter | |
| ENST00000478894.6:c.655C>T | ENSP00000417777.2:p.Arg219Ter | |
| ENST00000482628.5:c.610C>T | ENSP00000417141.1:p.Arg204Ter | |
| ENST00000484955.5:c.610C>T | ENSP00000417835.1:p.Arg204Ter | |
| ENST00000491767.5:c.463C>T | ENSP00000420410.1:p.Arg155Ter | |
| ENST00000497004.5:n.876C>T | ||
| ENST00000498592.5:c.550C>T | ENSP00000419636.1:p.Arg184Ter | |
| ENST00000618075.4:c.481C>T | ENSP00000484169.1:p.Arg161Ter | |
| ENST00000619577.4:c.655C>T | ENSP00000483337.1:p.Arg219Ter | |
| NM_001130156.2:c.610C>T | NP_001123628.1:p.Arg204Ter | |
| NM_001130157.2:c.610C>T | NP_001123629.1:p.Arg204Ter | |
| NM_001195432.1:c.778C>T | NP_001182361.1:p.Arg260Ter | |
| NM_001195433.1:c.481C>T | NP_001182362.1:p.Arg161Ter | |
| NM_001195434.1:c.655C>T | NP_001182363.1:p.Arg219Ter | |
| NM_022443.4:c.685C>T | NP_071888.1:p.Arg229Ter | |
| XM_005247479.3:c.730C>T | XP_005247536.1:p.Arg244Ter | |
| XM_005247480.2:c.655C>T | XP_005247537.1:p.Arg219Ter | |
| XM_006713645.2:c.550C>T | XP_006713708.1:p.Arg184Ter | |
| XM_011512852.1:c.655C>T | XP_011511154.1:p.Arg219Ter | |
| XM_011512853.1:c.610C>T | XP_011511155.1:p.Arg204Ter | |
| XM_011512854.1:c.463C>T | XP_011511156.1:p.Arg155Ter | |
| XM_005247479.5:c.730C>T | XP_005247536.1:p.Arg244Ter | |
| XM_011512852.3:c.655C>T | XP_011511154.1:p.Arg219Ter | |
| XM_011512853.2:c.610C>T | XP_011511155.1:p.Arg204Ter | |
| XM_011512854.2:c.463C>T | XP_011511156.1:p.Arg155Ter | |
| NM_001130156.3:c.610C>T | NP_001123628.1:p.Arg204Ter | |
| NM_001130157.3:c.610C>T | NP_001123629.1:p.Arg204Ter | |
| NM_001195432.2:c.778C>T | NP_001182361.1:p.Arg260Ter | |
| NM_001195433.2:c.481C>T | NP_001182362.1:p.Arg161Ter | |
| NM_001195434.2:c.655C>T | NP_001182363.1:p.Arg219Ter | |
| NM_001369781.1:c.550C>T | NP_001356710.1:p.Arg184Ter | |
| NM_001369782.1:c.463C>T | NP_001356711.1:p.Arg155Ter | |
| NM_001369783.1:c.730C>T MANE Select | NP_001356712.1:p.Arg244Ter | |
| NM_001369784.1:c.610C>T | NP_001356713.1:p.Arg204Ter | |
| NM_001369785.1:c.655C>T | NP_001356714.1:p.Arg219Ter | |
| NM_022443.5:c.685C>T | NP_071888.1:p.Arg229Ter | |
| NM_001195432.4:c.655C>T | NP_001182361.2:p.Arg219Ter | |
| NM_001378845.1:c.685C>T | NP_001365774.1:p.Arg229Ter | |
| NM_001378846.1:c.655C>T | NP_001365775.1:p.Arg219Ter | |
| NM_001378847.1:c.610C>T | NP_001365776.1:p.Arg204Ter | |
| NM_001378848.1:c.610C>T | NP_001365777.1:p.Arg204Ter | |
| NM_001378850.1:c.610C>T | NP_001365779.1:p.Arg204Ter | |
| NM_001378851.1:c.601C>T | NP_001365780.1:p.Arg201Ter | |
| NM_001378852.1:c.569-2174C>T | NP_001365781.1:n.569-2174C>T | |
| NM_001378853.1:c.610C>T | NP_001365782.1:p.Arg204Ter | |
| NM_001378855.1:c.494-2174C>T | NP_001365784.1:n.494-2174C>T |