Linked Data
ClinVar Variation Id:
1101650
ClinVar RCV Id:
RCV001424652
dbSNP Id:
rs2145263234
gnomAD v4:
19-33302121-C-T
MyVariant Identifiers:
chr19:g.33793027C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302121C>T , CM000681.2:g.33302121C>T | GRCh38 |
| NC_000019.9:g.33793027C>T , CM000681.1:g.33793027C>T | GRCh37 |
| NC_000019.8:g.38484867C>T | NCBI36 |
| NG_012022.1:g.5404G>A , LRG_456:g.5404G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.294G>A MANE Select | ENSP00000427514.1:p.Thr98= | |
| ENST00000498907.2:c.294G>A | ENSP00000427514.1:p.Thr98= | |
| NM_001285829.1:c.-64G>A | NP_001272758.1:n.-64G>A | |
| NM_001287424.1:c.399G>A | NP_001274353.1:p.Thr133= | |
| NM_001287435.1:c.252G>A | NP_001274364.1:p.Thr84= | |
| NM_004364.4:c.294G>A | NP_004355.2:p.Thr98= | |
| NM_001287424.2:c.399G>A | NP_001274353.1:p.Thr133= | |
| NM_004364.5:c.294G>A MANE Select | NP_004355.2:p.Thr98= | |
| NM_001285829.2:c.-64G>A | NP_001272758.1:n.-64G>A | |
| NM_001287435.2:c.252G>A | NP_001274364.1:p.Thr84= |