Linked Data
ClinVar Variation Id:
50208
dbSNP Id:
rs397514688
ExAC:
17:61560533 C / T
gnomAD v2:
17-61560533-C-T
gnomAD v3:
17-63483172-C-T
gnomAD v4:
17-63483172-C-T
PubMed:
PMID:22095942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63483172C>T , CM000679.2:g.63483172C>T | GRCh38 |
| NC_000017.10:g.61560533C>T , CM000679.1:g.61560533C>T | GRCh37 |
| NC_000017.9:g.58914265C>T | NCBI36 |
| NG_011648.1:g.11100C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.1486C>T MANE Select | ENSP00000290866.4:p.Arg496Ter | |
| ENST00000290866.9:c.1486C>T | ENSP00000290866.4:p.Arg496Ter | |
| ENST00000428043.5:c.1486C>T | ENSP00000397593.2:p.Arg496Ter | |
| ENST00000582678.5:c.*885C>T | ENSP00000462995.1:n.*885C>T | |
| ENST00000584529.5:n.1377-288C>T | ||
| NM_000789.3:c.1486C>T | NP_000780.1:p.Arg496Ter | |
| XM_005257110.1:c.937C>T | XP_005257167.1:p.Arg313Ter | |
| NM_000789.4:c.1486C>T MANE Select | NP_000780.1:p.Arg496Ter | |
| NM_001382700.1:c.919C>T | NP_001369629.1:p.Arg307Ter | |
| NM_001382701.1:c.634C>T | NP_001369630.1:p.Arg212Ter |