Linked Data
MyVariant Identifiers:
chr15:g.48703205G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411008G>A , CM000677.2:g.48411008G>A | GRCh38 |
| NC_000015.9:g.48703205G>A , CM000677.1:g.48703205G>A | GRCh37 |
| NC_000015.8:g.46490497G>A | NCBI36 |
| NG_008805.2:g.239781C>T , LRG_778:g.239781C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1406C>T | ENSP00000453958.2:n.*1406C>T | |
| ENST00000682158.1:n.1979C>T | ||
| ENST00000682170.1:n.2779C>T | ||
| ENST00000682767.1:n.1895C>T | ||
| ENST00000316623.10:c.8598C>T MANE Select | ENSP00000325527.5:p.Ile2866= | |
| ENST00000316623.9:c.8598C>T | ENSP00000325527.5:p.Ile2866= | |
| ENST00000559133.5:c.3967C>T | ||
| NM_000138.4:c.8598C>T , LRG_778t1:c.8598C>T | NP_000129.3:p.Ile2866= | |
| NM_000138.5:c.8598C>T MANE Select | NP_000129.3:p.Ile2866= |