Linked Data
MyVariant Identifiers:
chr14:g.101349473C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883136C>G , CM000676.2:g.100883136C>G | GRCh38 |
| NC_000014.8:g.101349473C>G , CM000676.1:g.101349473C>G | GRCh37 |
| NC_000014.7:g.100419226C>G | NCBI36 |
| NG_045001.1:g.6712G>C | |
| NG_045000.5:g.51868C>G | |
| NG_045000.6:g.51868C>G | |
| NG_045001.2:g.25587G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1653G>C MANE Select | ENSP00000497482.1:p.Leu551= | |
| ENST00000534062.1:c.1653G>C | ENSP00000435342.1:p.Leu551= | |
| NM_001134888.2:c.1653G>C | NP_001128360.1:p.Leu551= | |
| NM_001134888.3:c.1653G>C MANE Select | NP_001128360.1:p.Leu551= |