Linked Data
ClinVar Variation Id:
639610
ClinVar RCV Id:
RCV000792449
dbSNP Id:
rs1600024079
gnomAD v4:
19-33302257-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302257C>A , CM000681.2:g.33302257C>A | GRCh38 |
| NC_000019.9:g.33793163C>A , CM000681.1:g.33793163C>A | GRCh37 |
| NC_000019.8:g.38485003C>A | NCBI36 |
| NG_012022.1:g.5268G>T , LRG_456:g.5268G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.158G>T MANE Select | ENSP00000427514.1:p.Gly53Val | |
| ENST00000498907.2:c.158G>T | ENSP00000427514.1:p.Gly53Val | |
| NM_001285829.1:c.-200G>T | NP_001272758.1:n.-200G>T | |
| NM_001287424.1:c.263G>T | NP_001274353.1:p.Gly88Val | |
| NM_001287435.1:c.116G>T | NP_001274364.1:p.Gly39Val | |
| NM_004364.4:c.158G>T | NP_004355.2:p.Gly53Val | |
| NM_001287424.2:c.263G>T | NP_001274353.1:p.Gly88Val | |
| NM_004364.5:c.158G>T MANE Select | NP_004355.2:p.Gly53Val | |
| NM_001285829.2:c.-200G>T | NP_001272758.1:n.-200G>T | |
| NM_001287435.2:c.116G>T | NP_001274364.1:p.Gly39Val |