Linked Data
ClinVar Variation Id:
56097
ClinVar RCV Id:
RCV000049506
dbSNP Id:
rs386833579
PubMed:
PMID:16601880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6620197C>A , CM000671.2:g.6620197C>A | GRCh38 |
| NC_000009.11:g.6620197C>A , CM000671.1:g.6620197C>A | GRCh37 |
| NC_000009.10:g.6610197C>A | NCBI36 |
| NG_016397.1:g.30496G>T , LRG_643:g.30496G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.457G>T MANE Select | ENSP00000370737.4:p.Glu153Ter | |
| ENST00000639020.1:c.52G>T | ENSP00000491392.1:p.Glu18Ter | |
| ENST00000639364.1:n.157G>T | ||
| ENST00000639840.1:c.163G>T | ENSP00000491161.1:p.Glu55Ter | |
| ENST00000639954.1:n.179-9841G>T | ||
| ENST00000640592.1:n.340G>T | ||
| ENST00000321612.6:c.457G>T | ENSP00000370737.3:p.Glu153Ter | |
| NM_000170.2:c.457G>T , LRG_643t1:c.457G>T | NP_000161.2:p.Glu153Ter | |
| NM_000170.3:c.457G>T MANE Select | NP_000161.2:p.Glu153Ter |