Linked Data
MyVariant Identifiers:
chr12:g.76740475T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76346695T>G , CM000674.2:g.76346695T>G | GRCh38 |
| NC_000012.11:g.76740475T>G , CM000674.1:g.76740475T>G | GRCh37 |
| NC_000012.10:g.75264606T>G | NCBI36 |
| NG_016357.1:g.6748A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650064.2:c.1290A>C MANE Select | ENSP00000497413.1:p.Leu430= | |
| ENST00000393262.3:c.1290A>C | ENSP00000376946.3:p.Leu430= | |
| NM_024685.3:c.1290A>C | NP_078961.3:p.Leu430= | |
| NM_024685.4:c.1290A>C MANE Select | NP_078961.3:p.Leu430= |