Linked Data
MyVariant Identifiers:
chr12:g.122064941C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121627035C>A , CM000674.2:g.121627035C>A | GRCh38 |
| NC_000012.11:g.122064941C>A , CM000674.1:g.122064941C>A | GRCh37 |
| NC_000012.10:g.120549324C>A | NCBI36 |
| NG_007500.1:g.5461C>A , LRG_93:g.5461C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698901.1:n.425+102C>A | ||
| ENST00000617316.2:c.288C>A | ENSP00000482568.2:p.Leu96= | |
| ENST00000646827.1:n.486C>A | ||
| ENST00000611718.1:c.99C>A | ENSP00000477953.1:p.Leu33= | |
| ENST00000616379.1:c.288C>A | ENSP00000480616.1:p.Leu96= | |
| ENST00000617316.1:c.99C>A | ENSP00000482568.1:p.Leu33= | |
| NM_032790.3:c.288C>A , LRG_93t1:c.288C>A | NP_116179.2:p.Leu96= |