Linked Data
ClinVar Variation Id:
2889618
ClinVar RCV Id:
RCV003720100
dbSNP Id:
rs546717968
ExAC:
12:50498369 C / T
gnomAD v2:
12-50498369-C-T
gnomAD v3:
12-50104586-C-T
gnomAD v4:
12-50104586-C-T
COSMIC:
COSM4902682
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50104586C>T , CM000674.2:g.50104586C>T | GRCh38 |
| NC_000012.11:g.50498369C>T , CM000674.1:g.50498369C>T | GRCh37 |
| NC_000012.10:g.48784636C>T | NCBI36 |
| NG_032168.1:g.5768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301149.8:c.54C>T MANE Select | ENSP00000301149.3:p.Ile18= | |
| ENST00000301149.7:c.54C>T | ENSP00000301149.3:p.Ile18= | |
| ENST00000547190.5:n.97C>T | ||
| ENST00000547964.5:c.98C>T | ENSP00000448244.1:p.Ser33Leu | |
| ENST00000548152.1:n.125C>T | ||
| ENST00000548814.1:c.54C>T | ENSP00000446768.1:p.Ile18= | |
| ENST00000551939.5:n.97C>T | ||
| NM_001257199.1:c.54C>T | NP_001244128.1:p.Ile18= | |
| NM_005276.3:c.54C>T | NP_005267.2:p.Ile18= | |
| NM_005276.4:c.54C>T MANE Select | NP_005267.2:p.Ile18= | |
| NM_001257199.2:c.54C>T | NP_001244128.1:p.Ile18= |