Linked Data
ClinVar Variation Id:
2965332
ClinVar RCV Id:
RCV003823498
dbSNP Id:
rs2055175917
COSMIC:
COSM4075739
MyVariant Identifiers:
chr19:g.18898331G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787522G>A , CM000681.2:g.18787522G>A | GRCh38 |
| NC_000019.9:g.18898331G>A , CM000681.1:g.18898331G>A | GRCh37 |
| NC_000019.8:g.18759331G>A | NCBI36 |
| NG_007070.1:g.8784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1104C>T MANE Select | ENSP00000222271.2:p.Gly368= | |
| ENST00000222271.6:c.1104C>T | ENSP00000222271.2:p.Gly368= | |
| ENST00000425807.1:c.945C>T | ENSP00000403792.1:p.Gly315= | |
| ENST00000542601.6:c.1005C>T | ENSP00000439156.2:p.Gly335= | |
| NM_000095.2:c.1104C>T | NP_000086.2:p.Gly368= | |
| NM_000095.3:c.1104C>T MANE Select | NP_000086.2:p.Gly368= |