Linked Data
ClinVar Variation Id:
838477
ClinVar RCV Id:
RCV001040030
dbSNP Id:
rs1967191321
gnomAD v4:
19-33302120-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.33302120C>T , CM000681.2:g.33302120C>T | GRCh38 |
| NC_000019.9:g.33793026C>T , CM000681.1:g.33793026C>T | GRCh37 |
| NC_000019.8:g.38484866C>T | NCBI36 |
| NG_012022.1:g.5405G>A , LRG_456:g.5405G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498907.3:c.295G>A MANE Select | ENSP00000427514.1:p.Gly99Ser | |
| ENST00000498907.2:c.295G>A | ENSP00000427514.1:p.Gly99Ser | |
| NM_001285829.1:c.-63G>A | NP_001272758.1:n.-63G>A | |
| NM_001287424.1:c.400G>A | NP_001274353.1:p.Gly134Ser | |
| NM_001287435.1:c.253G>A | NP_001274364.1:p.Gly85Ser | |
| NM_004364.4:c.295G>A | NP_004355.2:p.Gly99Ser | |
| NM_001287424.2:c.400G>A | NP_001274353.1:p.Gly134Ser | |
| NM_004364.5:c.295G>A MANE Select | NP_004355.2:p.Gly99Ser | |
| NM_001285829.2:c.-63G>A | NP_001272758.1:n.-63G>A | |
| NM_001287435.2:c.253G>A | NP_001274364.1:p.Gly85Ser |