Linked Data
ClinVar Variation Id:
6269
dbSNP Id:
rs121908661
gnomAD v4:
11-68386582-C-T
PubMed:
PMID:11719191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68386582C>T , CM000673.2:g.68386582C>T | GRCh38 |
| NC_000011.9:g.68154050C>T , CM000673.1:g.68154050C>T | GRCh37 |
| NC_000011.8:g.67910626C>T | NCBI36 |
| NG_015835.1:g.78943C>T | |
| NG_015835.2:g.78943C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.1282C>T MANE Select | ENSP00000294304.6:p.Arg428Ter | |
| ENST00000294304.11:c.1282C>T | ENSP00000294304.6:p.Arg428Ter | |
| ENST00000529993.5:c.1282C>T | ENSP00000436652.1:p.Arg428Ter | |
| NM_001291902.1:c.-484C>T | NP_001278831.1:n.-484C>T | |
| NM_002335.3:c.1282C>T | NP_002326.2:p.Arg428Ter | |
| XM_005273994.2:c.1282C>T | XP_005274051.1:p.Arg428Ter | |
| XM_011545029.1:c.1309C>T | XP_011543331.1:p.Arg437Ter | |
| XM_011545030.1:c.1309C>T | XP_011543332.1:p.Arg437Ter | |
| XM_011545031.1:c.1309C>T | XP_011543333.1:p.Arg437Ter | |
| XR_949925.1:n.1324C>T | ||
| XR_949926.1:n.1324C>T | ||
| XR_001747874.1:n.1324C>T | ||
| XR_949925.2:n.1324C>T | ||
| XR_949926.2:n.1324C>T | ||
| NM_002335.4:c.1282C>T MANE Select | NP_002326.2:p.Arg428Ter | |
| NM_001291902.2:c.-484C>T | NP_001278831.1:n.-484C>T |