Linked Data
ClinVar Variation Id:
437937
ClinVar RCV Id:
RCV000505068
dbSNP Id:
rs1553687058
gnomAD v4:
3-101319800-C-A
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.101319800C>A , CM000665.2:g.101319800C>A | GRCh38 |
| NC_000003.11:g.101038644C>A , CM000665.1:g.101038644C>A | GRCh37 |
| NC_000003.10:g.102521334C>A | NCBI36 |
| NG_028284.1:g.5776G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000193391.8:c.118G>T MANE Select | ENSP00000193391.6:p.Glu40Ter | |
| ENST00000193391.7:c.118G>T | ENSP00000193391.6:p.Glu40Ter | |
| NM_016247.3:c.118G>T | NP_057331.2:p.Glu40Ter | |
| XM_011512872.1:c.-294G>T | XP_011511174.1:n.-294G>T | |
| NM_016247.4:c.118G>T MANE Select | NP_057331.2:p.Glu40Ter |