Linked Data
ClinVar Variation Id:
11429
ClinVar RCV Id:
RCV000012182
dbSNP Id:
rs104894903
gnomAD v2:
X-152018962-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152850418C>T , CM000685.2:g.152850418C>T | GRCh38 |
| NC_000023.10:g.152018962C>T , CM000685.1:g.152018962C>T | GRCh37 |
| NC_000023.9:g.151769618C>T | NCBI36 |
| NG_009163.1:g.24452C>T | |
| NG_009163.2:g.24452C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370274.8:c.262C>T MANE Select | ENSP00000359297.3:p.Arg88Ter | |
| ENST00000370274.7:c.262C>T | ENSP00000359297.3:p.Arg88Ter | |
| ENST00000432467.1:c.262C>T | ENSP00000396266.1:p.Arg88Ter | |
| ENST00000440023.5:c.262C>T | ENSP00000391854.1:p.Arg88Ter | |
| NM_001129765.1:c.262C>T | NP_001123237.1:p.Arg88Ter | |
| NM_015922.2:c.262C>T | NP_057006.1:p.Arg88Ter | |
| XM_011531178.1:c.262C>T | XP_011529480.1:p.Arg88Ter | |
| XM_011531178.2:c.262C>T | XP_011529480.1:p.Arg88Ter | |
| XM_017029564.1:c.310C>T | XP_016885053.1:p.Arg104Ter | |
| NM_015922.3:c.262C>T MANE Select | NP_057006.1:p.Arg88Ter | |
| NM_001129765.2:c.262C>T | NP_001123237.1:p.Arg88Ter |