Linked Data
ClinVar Variation Id:
1187002
ClinVar RCV Id:
RCV001546302
dbSNP Id:
rs984944183
gnomAD v4:
12-47993823-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47993823C>A , CM000674.2:g.47993823C>A | GRCh38 |
| NC_000012.11:g.48387606C>A , CM000674.1:g.48387606C>A | GRCh37 |
| NC_000012.10:g.46673873C>A | NCBI36 |
| NG_008072.1:g.15680G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.703G>T | ENSP00000338213.6:p.Ala235Ser | |
| ENST00000380518.8:c.910G>T MANE Select | ENSP00000369889.3:p.Ala304Ser | |
| ENST00000337299.6:c.703G>T | ENSP00000338213.6:p.Ala235Ser | |
| ENST00000380518.7:c.910G>T | ENSP00000369889.3:p.Ala304Ser | |
| NM_001844.4:c.910G>T | NP_001835.3:p.Ala304Ser | |
| NM_033150.2:c.703G>T | NP_149162.2:p.Ala235Ser | |
| XM_006719242.2:c.1054G>T | XP_006719305.2:p.Ala352Ser | |
| XM_011537928.1:c.1054G>T | XP_011536230.1:p.Ala352Ser | |
| XM_011537929.1:c.1054G>T | XP_011536231.1:p.Ala352Ser | |
| XM_011537930.1:c.1054G>T | XP_011536232.1:p.Ala352Ser | |
| XM_011537931.1:c.1054G>T | XP_011536233.1:p.Ala352Ser | |
| XM_011537932.1:c.1054G>T | XP_011536234.1:p.Ala352Ser | |
| XM_011537933.1:c.1054G>T | XP_011536235.1:p.Ala352Ser | |
| XM_011537934.1:c.1051G>T | XP_011536236.1:p.Ala351Ser | |
| XM_017018828.1:c.1054G>T | XP_016874317.1:p.Ala352Ser | |
| XM_017018829.1:c.1051G>T | XP_016874318.1:p.Ala351Ser | |
| XM_017018830.1:c.844G>T | XP_016874319.1:p.Ala282Ser | |
| XM_017018831.2:c.364G>T | XP_016874320.1:p.Ala122Ser | |
| NM_001844.5:c.910G>T MANE Select | NP_001835.3:p.Ala304Ser | |
| NM_033150.3:c.703G>T | NP_149162.2:p.Ala235Ser |