Linked Data
ClinVar Variation Id:
7989
ClinVar RCV Id:
RCV000008453
dbSNP Id:
rs104894376
PubMed:
PMID:12116211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114677644T>A , CM000674.2:g.114677644T>A | GRCh38 |
| NC_000012.11:g.115115449T>A , CM000674.1:g.115115449T>A | GRCh37 |
| NC_000012.10:g.113599832T>A | NCBI36 |
| NG_008315.1:g.11521A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349155.7:c.817A>T MANE Select | ENSP00000257567.2:p.Lys273Ter | |
| ENST00000257566.7:c.877A>T | ENSP00000257566.3:p.Lys293Ter | |
| ENST00000349155.6:c.817A>T | ENSP00000257567.2:p.Lys273Ter | |
| ENST00000548503.1:n.442A>T | ||
| ENST00000613550.1:c.817A>T | ENSP00000480048.1:p.Lys273Ter | |
| NM_005996.3:c.817A>T | NP_005987.3:p.Lys273Ter | |
| NM_016569.3:c.877A>T | NP_057653.3:p.Lys293Ter | |
| NM_005996.4:c.817A>T MANE Select | NP_005987.3:p.Lys273Ter | |
| NM_016569.4:c.877A>T | NP_057653.3:p.Lys293Ter |