Linked Data
MyVariant Identifiers:
chr14:g.101349494T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883157T>A , CM000676.2:g.100883157T>A | GRCh38 |
| NC_000014.8:g.101349494T>A , CM000676.1:g.101349494T>A | GRCh37 |
| NC_000014.7:g.100419247T>A | NCBI36 |
| NG_045001.1:g.6691A>T | |
| NG_045000.5:g.51889T>A | |
| NG_045000.6:g.51889T>A | |
| NG_045001.2:g.25566A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1632A>T MANE Select | ENSP00000497482.1:p.Leu544= | |
| ENST00000534062.1:c.1632A>T | ENSP00000435342.1:p.Leu544= | |
| NM_001134888.2:c.1632A>T | NP_001128360.1:p.Leu544= | |
| NM_001134888.3:c.1632A>T MANE Select | NP_001128360.1:p.Leu544= |