Linked Data
ClinVar Variation Id:
56105
ClinVar RCV Id:
RCV000049514
dbSNP Id:
rs386833588
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6605184C>A , CM000671.2:g.6605184C>A | GRCh38 |
| NC_000009.11:g.6605184C>A , CM000671.1:g.6605184C>A | GRCh37 |
| NC_000009.10:g.6595184C>A | NCBI36 |
| NG_016397.1:g.45509G>T , LRG_643:g.45509G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.808G>T MANE Select | ENSP00000370737.4:p.Glu270Ter | |
| ENST00000638654.1:c.55G>T | ENSP00000491101.1:p.Glu19Ter | |
| ENST00000639364.1:n.508G>T | ||
| ENST00000639443.1:n.376G>T | ||
| ENST00000639954.1:n.516G>T | ||
| ENST00000640592.1:n.691G>T | ||
| ENST00000321612.6:c.808G>T | ENSP00000370737.3:p.Glu270Ter | |
| ENST00000463305.1:n.89G>T | ||
| NM_000170.2:c.808G>T , LRG_643t1:c.808G>T | NP_000161.2:p.Glu270Ter | |
| NM_000170.3:c.808G>T MANE Select | NP_000161.2:p.Glu270Ter |