Linked Data
ClinVar Variation Id:
239917
ClinVar RCV Id:
RCV000227901
dbSNP Id:
rs375833261
ExAC:
19:33792303 C / T
gnomAD v2:
19-33792303-C-T
gnomAD v3:
19-33301397-C-T
gnomAD v4:
19-33301397-C-T
COSMIC:
COSM18478
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33301397C>T , CM000681.2:g.33301397C>T | GRCh38 |
| NC_000019.9:g.33792303C>T , CM000681.1:g.33792303C>T | GRCh37 |
| NC_000019.8:g.38484143C>T | NCBI36 |
| NG_012022.1:g.6128G>A , LRG_456:g.6128G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498907.3:c.1018G>A MANE Select | ENSP00000427514.1:p.Gly340Ser | |
| ENST00000498907.2:c.1018G>A | ENSP00000427514.1:p.Gly340Ser | |
| NM_001285829.1:c.661G>A | NP_001272758.1:p.Gly221Ser | |
| NM_001287424.1:c.1123G>A | NP_001274353.1:p.Gly375Ser | |
| NM_001287435.1:c.976G>A | NP_001274364.1:p.Gly326Ser | |
| NM_004364.4:c.1018G>A | NP_004355.2:p.Gly340Ser | |
| NM_001287424.2:c.1123G>A | NP_001274353.1:p.Gly375Ser | |
| NM_004364.5:c.1018G>A MANE Select | NP_004355.2:p.Gly340Ser | |
| NM_001285829.2:c.661G>A | NP_001272758.1:p.Gly221Ser | |
| NM_001287435.2:c.976G>A | NP_001274364.1:p.Gly326Ser |