Linked Data
ClinVar Variation Id:
2825474
ClinVar RCV Id:
RCV003681050
dbSNP Id:
rs1889570675
gnomAD v3:
14-75003378-C-T
gnomAD v4:
14-75003378-C-T
MyVariant Identifiers:
chr14:g.75470081C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003378C>T , CM000676.2:g.75003378C>T | GRCh38 |
| NC_000014.8:g.75470081C>T , CM000676.1:g.75470081C>T | GRCh37 |
| NC_000014.7:g.74539834C>T | NCBI36 |
| NG_013333.1:g.5470C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.267C>T MANE Select | ENSP00000266126.5:p.Ile89= | |
| ENST00000266126.9:c.267C>T | ENSP00000266126.5:p.Ile89= | |
| ENST00000553401.5:c.240C>T | ENSP00000451681.1:p.Ile80= | |
| ENST00000553539.1:n.407C>T | ||
| ENST00000555522.1:n.325C>T | ||
| ENST00000556028.5:c.267C>T | ENSP00000452311.1:p.Ile89= | |
| NM_014239.3:c.267C>T | NP_055054.1:p.Ile89= | |
| NM_014239.4:c.267C>T MANE Select | NP_055054.1:p.Ile89= |