Linked Data
ClinVar Variation Id:
370150
ClinVar RCV Id:
RCV000411673
dbSNP Id:
rs1057516272
gnomAD v2:
21-45706464-G-T
gnomAD v4:
21-44286581-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286581G>T , CM000683.2:g.44286581G>T | GRCh38 |
| NC_000021.8:g.45706464G>T , CM000683.1:g.45706464G>T | GRCh37 |
| NC_000021.7:g.44530892G>T | NCBI36 |
| NG_009556.1:g.5702G>T , LRG_18:g.5702G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.157G>T MANE Select | ENSP00000291582.5:p.Glu53Ter | |
| ENST00000291582.5:c.157G>T | ENSP00000291582.5:p.Glu53Ter | |
| ENST00000527919.5:n.318G>T | ||
| ENST00000530812.5:n.326G>T | ||
| NM_000383.3:c.157G>T | NP_000374.1:p.Glu53Ter | |
| XM_011529551.1:c.157G>T | XP_011527853.1:p.Glu53Ter | |
| NM_000383.4:c.157G>T MANE Select | NP_000374.1:p.Glu53Ter |