Linked Data
ClinVar Variation Id:
10303
ClinVar RCV Id:
RCV000011016
dbSNP Id:
rs267606791
PubMed:
PMID:8281136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154902150C>A , CM000685.2:g.154902150C>A | GRCh38 |
| NC_000023.10:g.154130425C>A , CM000685.1:g.154130425C>A | GRCh37 |
| NC_000023.9:g.153783619C>A | NCBI36 |
| NG_011403.1:g.125574G>T | |
| NG_011403.2:g.125574G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6016G>T MANE Select | ENSP00000353393.4:p.Glu2006Ter | |
| ENST00000360256.8:c.6016G>T | ENSP00000353393.4:p.Glu2006Ter | |
| NM_000132.3:c.6016G>T | NP_000123.1:p.Glu2006Ter | |
| XM_011531126.1:c.5911G>T | XP_011529428.1:p.Glu1971Ter | |
| NM_000132.4:c.6016G>T MANE Select | NP_000123.1:p.Glu2006Ter |