Linked Data
MyVariant Identifiers:
chr15:g.48703193A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410996A>G , CM000677.2:g.48410996A>G | GRCh38 |
| NC_000015.9:g.48703193A>G , CM000677.1:g.48703193A>G | GRCh37 |
| NC_000015.8:g.46490485A>G | NCBI36 |
| NG_008805.2:g.239793T>C , LRG_778:g.239793T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1418T>C | ENSP00000453958.2:n.*1418T>C | |
| ENST00000682158.1:n.1991T>C | ||
| ENST00000682170.1:n.2791T>C | ||
| ENST00000682767.1:n.1907T>C | ||
| ENST00000316623.10:c.8610T>C MANE Select | ENSP00000325527.5:p.Leu2870= | |
| ENST00000316623.9:c.8610T>C | ENSP00000325527.5:p.Leu2870= | |
| ENST00000559133.5:c.3979T>C | ||
| NM_000138.4:c.8610T>C , LRG_778t1:c.8610T>C | NP_000129.3:p.Leu2870= | |
| NM_000138.5:c.8610T>C MANE Select | NP_000129.3:p.Leu2870= |