Linked Data
MyVariant Identifiers:
chr12:g.111350930G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913126G>C , CM000674.2:g.110913126G>C | GRCh38 |
| NC_000012.11:g.111350930G>C , CM000674.1:g.111350930G>C | GRCh37 |
| NC_000012.10:g.109835313G>C | NCBI36 |
| NG_007554.1:g.12452C>G , LRG_393:g.12452C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.372C>G MANE Select | ENSP00000228841.8:p.Thr124= | |
| ENST00000663220.1:c.315C>G | ENSP00000499568.1:p.Thr105= | |
| ENST00000228841.12:c.372C>G | ENSP00000228841.7:p.Thr124= | |
| ENST00000548438.1:c.330C>G | ENSP00000447154.1:p.Thr110= | |
| NM_000432.3:c.372C>G , LRG_393t1:c.372C>G | NP_000423.2:p.Thr124= | |
| NM_000432.4:c.372C>G MANE Select | NP_000423.2:p.Thr124= |