Linked Data
ClinVar Variation Id:
13565
dbSNP Id:
rs121918451
gnomAD v4:
17-47300488-G-T
PubMed:
PMID:9845537
ERepo:
CA123249/MONDO:0100326/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47300488G>T , CM000679.2:g.47300488G>T | GRCh38 |
| NC_000017.10:g.45377854G>T , CM000679.1:g.45377854G>T | GRCh37 |
| NC_000017.9:g.42732853G>T | NCBI36 |
| NG_008332.2:g.51647G>T , LRG_481:g.51647G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696963.1:c.1924G>T | ENSP00000513002.1:p.Glu642Ter | |
| ENST00000559488.7:c.1924G>T MANE Select | ENSP00000452786.2:p.Glu642Ter | |
| ENST00000559488.5:c.1924G>T | ENSP00000452786.1:p.Glu642Ter | |
| ENST00000560629.1:c.1889G>T | ||
| NM_000212.2:c.1924G>T , LRG_481t1:c.1924G>T | NP_000203.2:p.Glu642Ter | |
| NM_000212.3:c.1924G>T MANE Select | NP_000203.2:p.Glu642Ter |