Linked Data
gnomAD v4:
12-110913311-C-T
COSMIC:
COSM3384025
MyVariant Identifiers:
chr12:g.111351115C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110913311C>T , CM000674.2:g.110913311C>T | GRCh38 |
| NC_000012.11:g.111351115C>T , CM000674.1:g.111351115C>T | GRCh37 |
| NC_000012.10:g.109835498C>T | NCBI36 |
| NG_007554.1:g.12267G>A , LRG_393:g.12267G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.288G>A MANE Select | ENSP00000228841.8:p.Glu96= | |
| ENST00000663220.1:c.231G>A | ENSP00000499568.1:p.Glu77= | |
| ENST00000228841.12:c.288G>A | ENSP00000228841.7:p.Glu96= | |
| ENST00000548438.1:c.246G>A | ENSP00000447154.1:p.Glu82= | |
| ENST00000549029.1:n.119G>A | ||
| NM_000432.3:c.288G>A , LRG_393t1:c.288G>A | NP_000423.2:p.Glu96= | |
| NM_000432.4:c.288G>A MANE Select | NP_000423.2:p.Glu96= |