Linked Data
ClinVar Variation Id:
843642
ClinVar RCV Id:
RCV001046316
dbSNP Id:
rs1967191484
gnomAD v4:
19-33302125-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302125G>A , CM000681.2:g.33302125G>A | GRCh38 |
| NC_000019.9:g.33793031G>A , CM000681.1:g.33793031G>A | GRCh37 |
| NC_000019.8:g.38484871G>A | NCBI36 |
| NG_012022.1:g.5400C>T , LRG_456:g.5400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.290C>T MANE Select | ENSP00000427514.1:p.Pro97Leu | |
| ENST00000498907.2:c.290C>T | ENSP00000427514.1:p.Pro97Leu | |
| NM_001285829.1:c.-68C>T | NP_001272758.1:n.-68C>T | |
| NM_001287424.1:c.395C>T | NP_001274353.1:p.Pro132Leu | |
| NM_001287435.1:c.248C>T | NP_001274364.1:p.Pro83Leu | |
| NM_004364.4:c.290C>T | NP_004355.2:p.Pro97Leu | |
| NM_001287424.2:c.395C>T | NP_001274353.1:p.Pro132Leu | |
| NM_004364.5:c.290C>T MANE Select | NP_004355.2:p.Pro97Leu | |
| NM_001285829.2:c.-68C>T | NP_001272758.1:n.-68C>T | |
| NM_001287435.2:c.248C>T | NP_001274364.1:p.Pro83Leu |