Linked Data
ClinVar Variation Id:
17567
ClinVar RCV Id:
RCV000019127
dbSNP Id:
rs121912791
gnomAD v4:
19-33302267-C-A
COSMIC:
COSM1377
PubMed:
PMID:11242107
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302267C>A , CM000681.2:g.33302267C>A | GRCh38 |
| NC_000019.9:g.33793173C>A , CM000681.1:g.33793173C>A | GRCh37 |
| NC_000019.8:g.38485013C>A | NCBI36 |
| NG_012022.1:g.5258G>T , LRG_456:g.5258G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.148G>T MANE Select | ENSP00000427514.1:p.Glu50Ter | |
| ENST00000498907.2:c.148G>T | ENSP00000427514.1:p.Glu50Ter | |
| NM_001285829.1:c.-210G>T | NP_001272758.1:n.-210G>T | |
| NM_001287424.1:c.253G>T | NP_001274353.1:p.Glu85Ter | |
| NM_001287435.1:c.106G>T | NP_001274364.1:p.Glu36Ter | |
| NM_004364.4:c.148G>T | NP_004355.2:p.Glu50Ter | |
| NM_001287424.2:c.253G>T | NP_001274353.1:p.Glu85Ter | |
| NM_004364.5:c.148G>T MANE Select | NP_004355.2:p.Glu50Ter | |
| NM_001285829.2:c.-210G>T | NP_001272758.1:n.-210G>T | |
| NM_001287435.2:c.106G>T | NP_001274364.1:p.Glu36Ter |