Linked Data
ClinVar Variation Id:
1085890
ClinVar RCV Id:
RCV001403464
dbSNP Id:
rs2146023990
MyVariant Identifiers:
chr19:g.7592834C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527948C>T , CM000681.2:g.7527948C>T | GRCh38 |
| NC_000019.9:g.7592834C>T , CM000681.1:g.7592834C>T | GRCh37 |
| NC_000019.8:g.7498834C>T | NCBI36 |
| NG_015806.1:g.10339C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.765C>T MANE Select | ENSP00000264079.5:p.Thr255= | |
| ENST00000264079.10:c.765C>T | ENSP00000264079.5:p.Thr255= | |
| ENST00000394321.9:n.1080C>T | ||
| NM_020533.2:c.765C>T | NP_065394.1:p.Thr255= | |
| NM_020533.3:c.765C>T MANE Select | NP_065394.1:p.Thr255= |