Linked Data
ClinVar Variation Id:
1926339
ClinVar RCV Id:
RCV002630596
gnomAD v4:
19-18787522-G-T
MyVariant Identifiers:
chr19:g.18898331G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787522G>T , CM000681.2:g.18787522G>T | GRCh38 |
| NC_000019.9:g.18898331G>T , CM000681.1:g.18898331G>T | GRCh37 |
| NC_000019.8:g.18759331G>T | NCBI36 |
| NG_007070.1:g.8784C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1104C>A MANE Select | ENSP00000222271.2:p.Gly368= | |
| ENST00000222271.6:c.1104C>A | ENSP00000222271.2:p.Gly368= | |
| ENST00000425807.1:c.945C>A | ENSP00000403792.1:p.Gly315= | |
| ENST00000542601.6:c.1005C>A | ENSP00000439156.2:p.Gly335= | |
| NM_000095.2:c.1104C>A | NP_000086.2:p.Gly368= | |
| NM_000095.3:c.1104C>A MANE Select | NP_000086.2:p.Gly368= |