Linked Data
ClinVar Variation Id:
2101045
ClinVar RCV Id:
RCV003026032
MyVariant Identifiers:
chr19:g.7591769C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526883C>T , CM000681.2:g.7526883C>T | GRCh38 |
| NC_000019.9:g.7591769C>T , CM000681.1:g.7591769C>T | GRCh37 |
| NC_000019.8:g.7497769C>T | NCBI36 |
| NG_015806.1:g.9274C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.528C>T MANE Select | ENSP00000264079.5:p.Asp176= | |
| ENST00000264079.10:c.528C>T | ENSP00000264079.5:p.Asp176= | |
| ENST00000394321.9:n.608C>T | ||
| ENST00000596008.1:n.490C>T | ||
| ENST00000598406.1:n.349C>T | ||
| ENST00000601003.1:c.528C>T | ENSP00000469074.1:p.Asp176= | |
| NM_020533.2:c.528C>T | NP_065394.1:p.Asp176= | |
| NM_020533.3:c.528C>T MANE Select | NP_065394.1:p.Asp176= |