Linked Data
ClinVar Variation Id:
2001687
ClinVar RCV Id:
RCV002815634
MyVariant Identifiers:
chr19:g.7598666G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533780G>T , CM000681.2:g.7533780G>T | GRCh38 |
| NC_000019.9:g.7598666G>T , CM000681.1:g.7598666G>T | GRCh37 |
| NC_000019.8:g.7504666G>T | NCBI36 |
| NG_013374.1:g.4629G>T | |
| NG_015806.1:g.16171G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1728G>T MANE Select | ENSP00000264079.5:p.Ser576= | |
| ENST00000264079.10:c.1728G>T | ENSP00000264079.5:p.Ser576= | |
| ENST00000394321.9:n.2043G>T | ||
| ENST00000599334.1:c.456G>T | ||
| ENST00000601870.1:c.81G>T | ||
| ENST00000602227.1:n.282G>T | ||
| NM_020533.2:c.1728G>T | NP_065394.1:p.Ser576= | |
| NM_020533.3:c.1728G>T MANE Select | NP_065394.1:p.Ser576= |