Linked Data
ClinVar Variation Id:
30405
ClinVar RCV Id:
RCV000023358
dbSNP Id:
rs387906880
PubMed:
PMID:16501001
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190409941A>T , CM000665.2:g.190409941A>T | GRCh38 |
| NC_000003.11:g.190127730A>T , CM000665.1:g.190127730A>T | GRCh37 |
| NC_000003.10:g.191610424A>T | NCBI36 |
| NG_008149.1:g.26890A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.613A>T MANE Select | ENSP00000264734.3:p.Lys205Ter | |
| ENST00000456423.2:c.*3A>T | ENSP00000414136.2:n.*3A>T | |
| ENST00000264734.2:c.823A>T | ENSP00000264734.2:p.Lys275Ter | |
| ENST00000456423.1:c.363A>T | ENSP00000414136.1:n.363A>T | |
| NM_006580.3:c.823A>T | NP_006571.1:p.Lys275Ter | |
| NM_001378492.1:c.613A>T | NP_001365421.1:p.Lys205Ter | |
| NM_001378493.1:c.613A>T | NP_001365422.1:p.Lys205Ter | |
| NM_006580.4:c.613A>T MANE Select | NP_006571.2:p.Lys205Ter |