Linked Data
ClinVar Variation Id:
35812
dbSNP Id:
rs193922135
gnomAD v4:
X-136648279-C-T
COSMIC:
COSM1465871
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136648279C>T , CM000685.2:g.136648279C>T | GRCh38 |
| NC_000023.10:g.135730438C>T , CM000685.1:g.135730438C>T | GRCh37 |
| NC_000023.9:g.135558104C>T | NCBI36 |
| NG_007280.1:g.5103C>T , LRG_141:g.5103C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.31C>T | ENSP00000512122.1:p.Arg11Ter | |
| ENST00000695725.1:c.31C>T | ENSP00000512123.1:p.Arg11Ter | |
| ENST00000695726.1:n.74C>T | ||
| ENST00000695727.1:n.18C>T | ||
| ENST00000695728.1:n.18C>T | ||
| ENST00000370629.7:c.31C>T MANE Select | ENSP00000359663.2:p.Arg11Ter | |
| ENST00000370628.2:c.31C>T | ENSP00000359662.2:p.Arg11Ter | |
| ENST00000370629.6:c.31C>T | ENSP00000359663.2:p.Arg11Ter | |
| NM_000074.2:c.31C>T , LRG_141t1:c.31C>T | NP_000065.1:p.Arg11Ter | |
| NM_000074.3:c.31C>T MANE Select | NP_000065.1:p.Arg11Ter |